### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SALL1) # 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}}" "SALL1" "sal-like 1 (Drosophila)" "16" "q12.1" "unknown" "NG_007990.1" "UD_132084452447" "" "https://www.LOVD.nl/SALL1" "" "1" "10524" "6299" "602218" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SALL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-08-01 10:51:29" "00006" "2026-02-27 08:53:46" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018378" "SALL1" "transcript variant 1" "001" "NM_002968.2" "" "NP_002959.2" "" "" "" "-31" "5112" "3975" "51185183" "51169886" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00472" "OAS" "oculo-auricular syndrome (OAS)" "" "612109" "" "" "" "00006" "2014-07-24 08:43:38" "00006" "2015-12-07 07:11:25" "00719" "TBS" "Townes-Brocks syndrome (TBS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05298" "TBS1" "Townes-Brocks syndrome, type 1 (TBS1)" "AD" "107480" "" "" "" "00006" "2017-06-29 16:20:13" "00006" "2021-12-10 21:51:32" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SALL1" "00139" "SALL1" "00719" "SALL1" "05298" ## Individuals ## Do not remove or alter this header ## ## Count = 128 "{{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}}" "00164430" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00291486" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316170" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K69" "00408819" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "1 patient" "M" "no" "Mexico" "" "0" "" "none" "" "EFAV_156" "00408820" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "4 patients (4 male)" "M" "no" "Mexico" "" "" "" "none" "" "EFAV_45" "00408821" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "5 patients (3 male, 2 female)" "F" "likely" "Mexico" "" "" "" "none" "" "EFAV_107" "00408822" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "1 patient" "M" "no" "Mexico" "" "0" "" "none" "" "EFAV_129" "00408823" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "1 patient" "M" "no" "Mexico" "" "0" "" "none" "" "EFAV_96" "00408824" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "49 patients (31 male, 18 female)" "M" "no" "Mexico" "" "" "" "none" "" "EFAV_96" "00408825" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "1 patient" "M" "no" "Mexico" "" "0" "" "none" "" "EFAV_135" "00408989" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "41 patients (26 male, 15 female)" "F" "likely" "Mexico" "" "" "" "none" "" "EFAV_102" "00441464" "" "" "00441463" "2" "" "00006" "{PMID:Yang 2021:33478437}" "affected daughter" "F" "" "China" "" "0" "" "" "China-S;Wuling Mountains" "FamPatIII3" "00441465" "" "" "00441463" "1" "" "00006" "{PMID:Yang 2021:33478437}" "father" "M" "" "China" "" "0" "" "" "China-S;Wuling Mountains" "FamPatII4" "00469534" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00472497" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00472498" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00472513" "" "" "" "1" "" "00006" "{PMID:Liberalesso 2017:29110636}" "2-generation family, 1 affected, unaffected parents" "M" "" "Brazil" "" "0" "" "" "" "PatVMFS" "00472514" "" "" "" "3" "" "00006" "{PMID:Kohlhase 1998:9425907}" "2-generation family, affected mother/son/duaghter" "F;M" "" "Germany" "" "0" "" "" "" "Fam1" "00472515" "" "" "" "1" "" "00006" "{PMID:Kohlhase 1998:9425907}" "2-generation family, 1 affected, unaffected parents" "M" "" "Germany" "" "0" "" "" "" "Fam2PatII1" "00472516" "" "" "" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam1Pat1" "00472517" "" "" "" "3" "" "00006" "{PMID:Kohlhase 1999:9973281}" "2-generation family, 3 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam2Pat1" "00472518" "" "" "00472517" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "relative" "M" "" "" "" "0" "" "" "" "Fam2Pat2" "00472519" "" "" "00472517" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "relative" "F" "" "" "" "0" "" "" "" "Fam2Pat3" "00472520" "" "" "" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam3Pat1" "00472521" "" "" "" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam4Pat1" "00472522" "" "" "" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam5Pat1" "00472523" "" "" "" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam6Pat1" "00472524" "" "" "" "2" "" "00006" "{PMID:Kohlhase 1999:9973281}" "2-generation family, 1 affected, unaffected mother (somatic mosaicism)" "M" "" "" "" "0" "" "" "" "Fam7Pat1" "00472525" "" "" "00472524" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "mother" "F" "" "" "" "0" "" "" "" "Fam7Pat2" "00472526" "" "" "" "2" "" "00006" "{PMID:Kohlhase 1999:9973281}" "3-generation family, affected father/son, unaffected non-carrier grandparents" "M" "" "" "" "0" "" "" "" "Fam8Pat1" "00472527" "" "" "00472526" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "son" "M" "" "" "" "0" "" "" "" "Fam8Pat2" "00472528" "" "" "" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam9Pat1" "00472529" "" "" "" "9" "" "00006" "{PMID:Kohlhase 1999:9973281}" "4-generation family, 9 affected, proband" "F" "" "" "" "0" "" "" "" "Fam10Pat1" "00472530" "" "" "00472529" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "mother" "F" "" "" "" "0" "" "" "" "Fam10Pat2" "00472531" "" "" "00472529" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "maternal cousin" "M" "" "" "" "0" "" "" "" "Fam10Pat3" "00472532" "" "" "" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam11Pat1" "00472533" "" "" "" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "" "" "" "" "" "0" "" "" "" "control" "00472534" "" "" "" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "" "" "" "" "" "0" "" "" "" "control" "00472535" "" "" "" "1" "" "00006" "{PMID:Kohlhase 1999:9973281}" "" "" "" "" "" "0" "" "" "" "control" "00472536" "" "" "" "2" "" "00006" "{PMID:Marlin 1999:10533063}" "2-generation family, affected son/mother" "M" "" "Reunion" "" "0" "" "" "" "TB1" "00472537" "" "" "" "2" "" "00006" "{PMID:Marlin 1999:10533063}" "2-generation family, affected son/father" "M" "" "Spain" "" "0" "" "" "" "TB2" "00472538" "" "" "" "3" "" "00006" "{PMID:Marlin 1999:10533063}" "3-generation family, affected daughter/mother/maternal aunt" "F" "" "France" "" "0" "" "" "" "TB3" "00472539" "" "" "" "1" "" "00006" "{PMID:Marlin 1999:10533063}" "2-generation family, several affected" "M" "" "France" "" "0" "" "" "" "TB4" "00472540" "" "" "" "1" "" "00006" "{PMID:Marlin 1999:10533063}" "3-generation family, several affected" "M" "" "France" "" "0" "" "" "" "TB5" "00472541" "" "" "" "1" "" "00006" "{PMID:Marlin 1999:10533063}" "sporadic patient" "" "" "Portugal" "" "0" "" "" "" "TB6" "00472542" "" "" "" "1" "" "00006" "{PMID:Marlin 1999:10533063}" "sporadic patient" "" "" "Italy" "" "0" "" "" "" "TB7" "00472543" "" "" "" "1" "" "00006" "{PMID:Marlin 1999:10533063}" "sporadic patient" "" "" "France" "" "0" "" "" "" "TB8" "00472544" "" "" "" "1" "" "00006" "{PMID:Marlin 1999:10533063}" "sporadic patient" "" "" "Reunion" "" "0" "" "" "" "TB9" "00472547" "" "" "" "1" "" "00006" "{PMID:Serville 1993:8357560}, {PMID:Marlin 1999:10533063}" "sporadic patient" "" "" "France" "" "0" "" "" "" "patient;TB12" "00472548" "" "" "" "1" "" "00006" "{PMID:Marlin 1999:10533063}" "control" "" "" "France" "" "0" "" "" "" "control" "00472549" "" "" "" "1" "" "00006" "{PMID:Marlin 1999:10533063}" "control" "" "" "France" "" "0" "" "" "" "control" "00472550" "" "" "" "1" "" "00006" "{PMID:Marlin 1999:10533063}" "control" "" "" "France" "" "0" "" "" "" "control" "00472551" "" "" "" "1" "" "00006" "{PMID:Marlin 1999:10533063}" "control" "" "" "France" "" "0" "" "" "" "control" "00472552" "" "" "" "1" "" "00006" "{PMID:Marlin 1999:10533063}" "control" "" "" "France" "" "0" "" "" "" "control" "00472553" "" "" "" "1" "" "00006" "{PMID:Marlin 1999:10533063}" "control" "" "" "France" "" "0" "" "" "" "control" "00472554" "" "" "" "3" "" "00006" "{PMID:Engels 2000:10928856}" "2-generation family, affected father/2 daughters" "F;M" "" "(New Zealand)" "" "0" "" "" "" "family" "00472555" "" "" "" "7" "" "00006" "{PMID:Surka 2001:11484202}" "4-generation family, 7 affected (5F, 2M)" "F;M" "" "United States" "" "0" "" "" "" "family" "00472556" "" "" "" "3" "" "00006" "{PMID:Albrecht 2004:14755477}" "2-generation family, affected father/2 sons (3M)" "M" "no" "Germany" "" "0" "" "" "" "family" "00472557" "" "" "" "1" "" "00006" "{PMID:Kosaki 2007:17431915}" "2-generation family, 2 affected sisters (mother dysplastic ears)" "F" "" "Japan" "" "0" "" "" "" "family" "00472558" "" "" "" "1" "" "00006" "{PMID:Furniss 2007:18000979}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "OX3335" "00472559" "" "" "" "1" "" "00006" "{PMID:Furniss 2007:18000979}" "patient" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "OX2948" "00472563" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "patient" "F" "" "" "" "0" "" "" "" "Pat1" "00472564" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "patient" "F" "" "" "" "0" "" "" "" "Pat2" "00472565" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "patient" "F" "" "" "" "0" "" "" "" "Pat3" "00472566" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "patient" "M" "" "" "" "0" "" "" "" "Pat4" "00472567" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "patient" "M" "" "" "" "0" "" "" "" "Pat5" "00472568" "" "" "" "2" "" "00006" "{PMID:Botzenhart 2007:17221874}" "2-generation family, affected son/mother" "M" "" "" "" "0" "" "" "" "Fam6Pat1" "00472569" "" "" "00472568" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "mother" "F" "" "" "" "0" "" "" "" "Fam6Pat2" "00472570" "" "" "" "5" "" "00006" "{PMID:Botzenhart 2007:17221874}" "2-generation family, affected son, 3 daughters, father" "M" "" "" "" "0" "" "" "" "Fam7PatII4" "00472571" "" "" "00472570" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "sister" "F" "" "" "" "0" "" "" "" "Fam7PatII2" "00472572" "" "" "00472570" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "sister, identical twins" "F" "" "" "" "0" "" "" "" "Fam7PatII3" "00472573" "" "" "00472570" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "sister, identical twins" "F" "" "" "" "0" "" "" "" "Fam7PatII4" "00472574" "" "" "00472570" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "father" "M" "" "" "" "0" "" "" "" "Fam7Pat!1" "00472575" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "patient" "M" "" "" "" "0" "" "" "" "Pat8" "00472576" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "patient" "F" "" "" "" "0" "" "" "" "Pat9" "00472577" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "patient" "F" "" "" "" "0" "" "" "" "Pat10" "00472578" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "patient" "M" "" "" "" "0" "" "" "" "Pat11" "00472579" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "patient" "F" "" "" "" "0" "" "" "" "Pat12" "00472580" "" "" "" "2" "" "00006" "{PMID:Botzenhart 2007:17221874}" "2-generation family, affected son/mother" "M" "" "" "" "0" "" "" "" "Fam13Pat1" "00472581" "" "" "00472580" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "mother" "F" "" "" "" "0" "" "" "" "Fam13Pat2" "00472582" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "patient" "F" "" "" "" "0" "" "" "" "Pat14" "00472583" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "patient" "F" "" "" "" "0" "" "" "" "Pat15" "00472584" "" "" "" "2" "" "00006" "{PMID:Botzenhart 2007:17221874}" "2-generation family, father/2 affected duaghters" "F" "" "" "" "0" "" "" "" "Fam16Pat1" "00472585" "" "" "00472584" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "sister" "F" "" "" "" "0" "" "" "" "Fam16Pat2" "00472586" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "patient" "F" "" "" "" "0" "" "" "" "Pat17" "00472587" "" "" "" "2" "" "00006" "{PMID:Botzenhart 2007:17221874}" "2-generation family, affected son/father" "M" "" "" "" "0" "" "" "" "Fam18Pat1" "00472588" "" "" "00472587" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "father" "M" "" "" "" "0" "" "" "" "Fam18Pat2" "00472589" "" "" "" "3" "" "00006" "{PMID:Botzenhart 2007:17221874}" "2-generation family, 2 affected brothers/mother" "M" "" "" "" "0" "" "" "" "Fam19Pat1" "00472590" "" "" "00472589" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "brother" "M" "" "" "" "0" "" "" "" "Fam19Pat2" "00472591" "" "" "00472589" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "mother" "F" "" "" "" "0" "" "" "" "Fam19Pat3" "00472592" "" "" "" "8" "" "00006" "{PMID:Botzenhart 2007:17221874}" "2-generation family, affected brothers/mother (8 affected, F, 7M)" "M" "" "" "" "0" "" "" "" "Fam20Pat1" "00472593" "" "" "00472592" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "brother" "M" "" "" "" "0" "" "" "" "Fam20Pat2" "00472594" "" "" "00472592" "1" "" "00006" "{PMID:Botzenhart 2007:17221874}" "mother" "F" "" "" "" "0" "" "" "" "Fam20Pat3" "00472596" "" "" "" "2" "" "00006" "{PMID:Botzenhart 2005:16088922}" "2-generation family, affected son/father" "M" "" "" "" "0" "" "" "" "FamAPat1" "00472597" "" "" "00472596" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "father" "M" "" "" "" "0" "" "" "" "FamAPat2" "00472598" "" "" "" "2" "" "00006" "{PMID:Botzenhart 2005:16088922}" "2-generation family, affected child/mother" "" "" "" "" "0" "" "" "" "FamBPat1" "00472599" "" "" "00472598" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "mother" "F" "" "" "" "0" "" "" "" "FamBPat2" "00472600" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "" "" "" "0" "" "" "" "FamCPat1" "00472601" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "FamDPat1" "00472602" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "FamEPat1" "00472603" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "FamFPat1" "00472604" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "FamGPat1" "00472605" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "FamHPat1" "00472606" "" "" "" "2" "" "00006" "{PMID:Botzenhart 2005:16088922}" "2-generation family, affected child/father" "" "" "" "" "0" "" "" "" "FamIPat1" "00472607" "" "" "00472606" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "father" "M" "" "" "" "0" "" "" "" "FamIPat2" "00472608" "" "" "" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "FamJPat1" "00472609" "" "" "" "3" "" "00006" "{PMID:Botzenhart 2005:16088922}" "2-generation family, affected sister/brother/mother" "F" "" "" "" "0" "" "" "" "FamKPat1" "00472610" "" "" "00472609" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "brother" "M" "" "" "" "0" "" "" "" "FamKPat2" "00472611" "" "" "00472609" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "mother" "F" "" "" "" "0" "" "" "" "FamKPat3" "00472612" "" "" "" "10" "" "00006" "{PMID:Botzenhart 2005:16088922}" "4-generation family, 10 affected individuals" "M" "" "" "" "0" "" "" "" "FamLPat1" "00472613" "" "" "00472612" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "daughter" "F" "" "" "" "0" "" "" "" "FamLPat2" "00472614" "" "" "00472612" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "daughter" "F" "" "" "" "0" "" "" "" "FamLPat3" "00472615" "" "" "00472612" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "daughter" "F" "" "" "" "0" "" "" "" "FamLPat4" "00472616" "" "" "00472612" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "grandson" "M" "" "" "" "0" "" "" "" "FamLPat5" "00472617" "" "" "00472612" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "grandson" "M" "" "" "" "0" "" "" "" "FamLPat6" "00472618" "" "" "00472612" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "granddaughter" "F" "" "" "" "0" "" "" "" "FamLPat7" "00472619" "" "" "00472612" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "grandson" "M" "" "" "" "0" "" "" "" "FamLPat8" "00472620" "" "" "00472612" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "grand grandson" "M" "" "" "" "0" "" "" "" "FamLPat9" "00472621" "" "" "00472612" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "grand grandson" "M" "" "" "" "0" "" "" "" "FamLPat10" "00472622" "" "" "" "3" "" "00006" "{PMID:Botzenhart 2005:16088922}" "3-generation family, affected son/mother, grandfather" "M" "" "" "" "0" "" "" "" "FamMPat1" "00472623" "" "" "00472622" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "mother" "F" "" "" "" "0" "" "" "" "FamMPat2" "00472624" "" "" "00472622" "1" "" "00006" "{PMID:Botzenhart 2005:16088922}" "paternal grandfather" "M" "" "" "" "0" "" "" "" "FamMPat3" "00472625" "" "" "" "1" "" "00006" "{PMID:Salerno 2000:10654325}" "" "M" "" "United States" "" "0" "" "" "African-American" "patient" "00472626" "" "" "" "6" "" "00006" "{PMID:Blanck 2000:10819639}" "3-generation family, 6 affected (4F, 2M)" "M" "" "" "" "0" "" "" "" "Fam3PatIII2" "00472627" "" "" "" "1" "" "00006" "{PMID:Blanck 2000:10819639}" "" "M" "" "" "" "0" "" "" "" "patient" "00472628" "" "" "" "2" "" "00006" "{PMID:Blanck 2000:10819639}" "2-generation family, affected sister/brother" "F" "no" "" "" "0" "" "" "" "family" "00472629" "" "" "" "2" "" "00006" "{PMID:Devriendt 2002:12210359}" "2-generation family, affected son/father" "M" "" "Belgium" "" "0" "" "" "" "patient" "00472630" "" "" "" "1" "" "00006" "{PMID:Walter 2006:16470706}" "2-generation family, 1 affected (4 likely affected heterozygous carriers)" "F" "" "Germany" "" "0" "" "" "" "FamPatII5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 128 "{{individualid}}" "{{diseaseid}}" "00164430" "00198" "00291486" "00198" "00316170" "05342" "00408819" "00472" "00408820" "00472" "00408821" "00472" "00408822" "00472" "00408823" "00472" "00408824" "00472" "00408825" "00472" "00408989" "00472" "00441464" "00719" "00441465" "00719" "00469534" "00198" "00472497" "00719" "00472498" "00719" "00472513" "00719" "00472514" "00719" "00472515" "00719" "00472516" "00719" "00472517" "00719" "00472518" "00719" "00472519" "00719" "00472520" "00719" "00472521" "00719" "00472522" "00719" "00472523" "00719" "00472524" "00719" "00472525" "00719" "00472526" "00719" "00472527" "00719" "00472528" "00719" "00472529" "00719" "00472530" "00719" "00472531" "00719" "00472532" "00719" "00472533" "00000" "00472534" "00000" "00472535" "00000" "00472536" "00719" "00472537" "00719" "00472538" "00719" "00472539" "00719" "00472540" "00719" "00472541" "00719" "00472542" "00719" "00472543" "00719" "00472544" "00719" "00472547" "00719" "00472548" "00000" "00472549" "00000" "00472550" "00000" "00472551" "00000" "00472552" "00000" "00472553" "00000" "00472554" "00198" "00472555" "00719" "00472556" "00719" "00472557" "00198" "00472558" "00719" "00472559" "00719" "00472563" "00719" "00472564" "00719" "00472565" "00719" "00472566" "00719" "00472567" "00719" "00472568" "00719" "00472569" "00719" "00472570" "00719" "00472571" "00719" "00472572" "00719" "00472573" "00719" "00472574" "00719" "00472575" "00719" "00472576" "00719" "00472577" "00719" "00472578" "00719" "00472579" "00719" "00472580" "00719" "00472581" "00719" "00472582" "00719" "00472583" "00719" "00472584" "00719" "00472585" "00719" "00472586" "00719" "00472587" "00719" "00472588" "00719" "00472589" "00719" "00472590" "00719" "00472591" "00719" "00472592" "00719" "00472593" "00719" "00472594" "00719" "00472596" "00719" "00472597" "00719" "00472598" "00719" "00472599" "00719" "00472600" "00719" "00472601" "00719" "00472602" "00719" "00472603" "00719" "00472604" "00719" "00472605" "00719" "00472606" "00719" "00472607" "00719" "00472608" "00719" "00472609" "00719" "00472610" "00719" "00472611" "00719" "00472612" "00719" "00472613" "00719" "00472614" "00719" "00472615" "00719" "00472616" "00719" "00472617" "00719" "00472618" "00719" "00472619" "00719" "00472620" "00719" "00472621" "00719" "00472622" "00719" "00472623" "00719" "00472624" "00719" "00472625" "00719" "00472626" "00719" "00472627" "00719" "00472628" "00719" "00472629" "00719" "00472630" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00472, 00719, 05298, 05342 ## Count = 118 "{{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}}" "0000129489" "00198" "00164430" "01807" "Unknown" "" "Omphalocele (HP:0001539); Triphalangeal thumb (HP:0001199)" "" "" "" "" "" "" "" "" "" "" "" "0000239917" "05342" "00316170" "00006" "Unknown" "" "bilateral multicystic dysplasia" "" "" "" "" "" "" "" "" "" "bilateral multicystic dysplasia" "" "0000300938" "00472" "00408819" "04221" "Familial" "06y" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), Vertebral clefting (HP:0008428)" "" "" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000300939" "00472" "00408820" "04221" "Unknown" "06y11m" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), ossicular chain abnormality (HPO:004452), conductive hearing impairment (HPO:0000405), supernumerary ribs (HPO:0005815)" "" "" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000300940" "00472" "00408821" "04221" "Familial" "10y" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), Vertebral clefting (HP:0008428)" "" "" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000300941" "00472" "00408822" "04221" "Unknown" "02y" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413),conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), hemifacial hypoplasia (HPO:0011332)" "" "" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000300942" "00472" "00408823" "04221" "Unknown" "" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452)." "" "06y11m" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000300943" "00472" "00408824" "04221" "Unknown" "" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452)." "" "06y11m" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000300944" "00472" "00408825" "04221" "Unknown" "02y09m" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), hemifacial hypoplasia (HPO:0011332)." "" "" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000301107" "00472" "00408989" "04221" "Unknown" "05y08m" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), sensorineural hearing impairment (HPO:0000407), renal hypoplasia (HPO:0008678)" "" "" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000330904" "00719" "00441464" "00006" "Familial, autosomal dominant" "00y02m" "congenital anal atresia, rectal perineal fistula, ventricular septal defect, patent ductus arteriosus, pulmonary hypertension, finger deformities" "" "" "" "" "" "" "" "" "tbs" "Townes-Brocks syndrome" "" "0000330905" "00719" "00441465" "00006" "Familial, autosomal dominant" "" "external ear deformity, deafness, toe deformities, pulmonary hypertension, normal anus" "" "" "" "" "" "" "" "" "TBS" "Townes-Brocks syndrome" "" "0000354687" "00198" "00469534" "03544" "Familial, autosomal dominant" "" "HP:0000089, HP:0000123, HP:0000365, HP:0000364, HP:0000891" "" "" "" "" "" "" "" "" "TBS1" "" "" "0000357307" "00719" "00472497" "03544" "Isolated (sporadic)" "" "HP:0001629, HP:0001653, HP:0001655, HP:0002023, HP:0003244, HP:0004871, HP:0005180, HP:0008551, HP:0009942, HP:0030319, HP:0001627" "" "" "" "" "" "" "" "" "TBS1" "TBS" "" "0000357308" "00719" "00472498" "03544" "Familial" "" "HP:0000083, HP:0012732, HP:0009942" "" "" "" "" "" "" "" "" "TBS1" "TBS" "" "0000357319" "00719" "00472513" "00006" "Unknown" "05y" "see paper; ..., birth vaginal delivery 38.5w, weight 2.735kg, length 48cm, OFC 34.5cm, anal atresia (2d-corrected by posterior sagittal anorretoplasty); developmental delay, speech delay, hyperactive, aggressive behavior, short stature, low anterior hairline, left microtia, agenesis helix, bilateral preauricular tags, low set ears, long eyelashes, epicanthus, deviated nose, downward pointing tip, short neck" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357320" "00719" "00472514" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357321" "00719" "00472515" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357322" "00719" "00472516" "00006" "Unknown" "" "imperforate anus, fistula; preaxial polydactyly, triphalangeal thumbs; dysplastic ears; borderline small kidneys; atrial septum defect" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357323" "00719" "00472517" "00006" "Familial, autosomal dominant" "" "imperforate anus; preaxial polydactyly, triphalangeal thumbs; dysplastic ears" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357324" "00719" "00472518" "00006" "Familial, autosomal dominant" "" "imperforate anus, fistula; preaxial polydactyly, triphalangeal thumbs; dysplastic ears" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357325" "00719" "00472519" "00006" "Familial, autosomal dominant" "" "imperforate anus, fistula; preaxial polydactyly, triphalangeal thumbs; dysplastic ears" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357326" "00719" "00472520" "00006" "Isolated (sporadic)" "" "imperforate anus, fistula; preaxial polydactyly; dysplastic ears" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357327" "00719" "00472521" "00006" "Isolated (sporadic)" "" "imperforate anus; triphalangeal thumbs; dysplastic ears" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357328" "00719" "00472522" "00006" "Isolated (sporadic)" "" "“Bucket handle”; triphalangeal thumbs; dysplastic ears" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357329" "00719" "00472523" "00006" "Unknown" "" "imperforate anus; partial preaxial polydactyly, misplaced thumbs; dysplastic ears" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357330" "00719" "00472524" "00006" "Familial, autosomal dominant" "" "imperforate anus; preaxial polydactyly; dysplastic ears" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357331" "00719" "00472525" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357332" "00719" "00472526" "00006" "Isolated (sporadic)" "" "preaxial polydactyly, triphalangeal thumbs, syndactyly III-IV; sensorineural hearing loss; bilateral hypoplastic kidneys, reduced clearance; syndactyly III-IV; hallux vagus;" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357333" "00719" "00472527" "00006" "Familial, autosomal dominant" "" "imperforate anus, fistula; preaxial polydactyly, triphalangeal thumbs; dysplastic ears" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357334" "00719" "00472528" "00006" "Unknown" "" "misplaced fingerlike thumbs; dysplastic ears; unilateral agenesis kidneys, reduced clearance" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357335" "00719" "00472529" "00006" "Familial, autosomal dominant" "" "medially rotated thumbs; sensorineural hearing loss; proteinuria; pes planus; caridac murmur;" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357336" "00719" "00472530" "00006" "Familial, autosomal dominant" "" "imperforate anus, fistula; elongated proximal phalanges; dysplastic ears" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357337" "00719" "00472531" "00006" "Familial, autosomal dominant" "" "imperforate anus, fistula; dysplastic ears" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357338" "00719" "00472532" "00006" "Unknown" "" "anteriorly placed anus; dysplastic ears" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357339" "00719" "00472536" "00006" "Familial, autosomal dominant" "" "imperforate anus; bifid thumbs; ears preauricular tags; mild sensorineural hearing loss; bilateral renal hypoplasia; persistent ductus arteriosus; foot malformations, abnormal toes" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357340" "00719" "00472537" "00006" "Familial, autosomal dominant" "" "imperforate anus; triphalangeal thumbs; ears preauricular tags; severe mixed hearing loss; normal renal ultrasonography; bifid toes" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357341" "00719" "00472538" "00006" "Familial, autosomal dominant" "" "imperforate anus, perineal fistula; triphalangeal thumbs; ears microtia; moderatesensorineural hearing loss; normal renal ultrasonography; foot malformation; arachnodactyly" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357342" "00719" "00472539" "00006" "Familial, autosomal dominant" "" "stenosis, antepositioned anus; broad thumbs; ears microtia, low set ears" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357343" "00719" "00472540" "00006" "Familial, autosomal dominant" "" "imperforate anus; bifid thumbs; ears preauricular tags, abnormal helix, low set ears; unilateral renal agenesis; metacarpal anomalies; growth delay; hand syndactylies" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357344" "00719" "00472541" "00006" "Isolated (sporadic)" "" "imperforate anus, perineal fistula; hexadactyly, triphalangeal thumbs; satyr ears, preauricular tags; mild mixed hearing loss; normal renal ultrasonography; uterovaginal hypoplasia; ventricular septal defect; hand syndactylies" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357345" "00719" "00472542" "00006" "Isolated (sporadic)" "" "imperforate anus, perineal fistula; hexadactyly, triphalangeal thumbs; external auditory atresia, ears microtia, ears preauricular tags/pits; profound sensorineural hearing loss; bilateral renal hypoplasia" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357346" "00719" "00472543" "00006" "Isolated (sporadic)" "" "imperforate anus; hexadactyly, triphalangeal thumbs; external auditory atresia, ears microtia; profound mixed hearing loss; renal failure; foot malformations; retinal maculopathy; angioedema" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357347" "00719" "00472544" "00006" "Isolated (sporadic)" "" "vulvar anus; hexadactyly thumbs; normal ears; no hearing loss; normal renal ultrasonography" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357350" "00719" "00472547" "00006" "Isolated (sporadic)" "" "imperforate anus; triphalangeal thumbs; ears preauricular tags, overfolded helix; no hearing loss; normal renal ultrasonography" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357351" "00198" "00472554" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "TBS1" "branchio-oto-renal syndrome-like" "" "0000357352" "00719" "00472555" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357353" "00719" "00472556" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks like syndrome" "" "0000357354" "00198" "00472557" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "TBS1" "external ear abnormalities ,Goldenhar syndrome" "" "0000357355" "00719" "00472558" "00006" "Unknown" "" "see paper; ..., hands preaxial polydactyly, normal feet; imperforate anus, rectal atresia, hypospadias, ears overfolded helices" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357356" "00719" "00472559" "00006" "Unknown" "" "see paper; ... hands preaxial polydactyly, triphalangeal thumb, normal feet;" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357360" "00719" "00472563" "00006" "Isolated (sporadic)" "" "imperforate anus, anteposition anus; duplication left thumb, bifid tragus with bilateral preauricular tags, constipation, normal development,a decreased creatinine clearance, impaired renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357361" "00719" "00472564" "00006" "Isolated (sporadic)" "" "imperforate low anterior positioned anus (transposition anoplasty); left preauricular tag, left preauricular pit, small squared left helix; 11m-slight facial asymmetry; deep sacral dimple; left triphalangeal bifid thumb, single proximal phalanx, right trifid thumb, duplicated proximal phalanx; carpal bones/radius/ulna normal bilaterally; 1y-surgery remove the radial duplicate thumb, excision proximal interphalangeal joint; postnatal left renal agenesis, normal appearance right kidney, normal adrenals, normal uterus, normal ovaries, normal bladder; impaired renal function; urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357362" "00719" "00472565" "00006" "Isolated (sporadic)" "" "imperforate anus; low set ears, overfolded superior helices; bilateral preauricular tags; bilateral triphalangeal thumbs, hypoplastic thenar eminences; 8m-normal growth, normal development; left ear hearing; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357363" "00719" "00472566" "00006" "Isolated (sporadic)" "" "imperforate anus, rectal atresia; severe hypospadias; bilateral preaxial polydactyly, right sided triphalangeal thumb, left sided bifid thumb; dysplastic ears, overfolded helices; 4d-ilateral small kidneys., 11y-idney sizes 0 h ; nofoot malformations ;thirteen ribs ight side.; 1y-normal dvelopmenta; normal renal function; urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357364" "00719" "00472567" "00006" "Isolated (sporadic)" "" "bilateral duplicated triphalangeal thumbs; dysplastic ears; bilateral 3/4 cutaneous syndactyly toes; anal stenosis (anoplasty surgery; 4y-corrected right-sided strabismus; normal hearing; speech therapy, speech delay; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357365" "00719" "00472568" "00006" "Familial, autosomal dominant" "" "left duplicated thumb; three preauricular skin tags; sensorineural hearing loss; dermoid cys left eye; left vesicoureteral reflux with left ureter reimplantation surgery; operated for hypospadias/chordee; bilateral pes planus; bilateral overlapping his second/third toes; gynecomastia; attention deficit disorder; normal renal function; urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357366" "00719" "00472569" "00006" "Familial, autosomal dominant" "" "right sided ear tag; hearing loss; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357367" "00719" "00472570" "00006" "Familial, autosomal dominant" "" "anal atresia (treated at birth); profound bilateral sensorineural hearing loss; dysplastic ears; overlapping toes (II and IV on III) , slightly broad thumbs; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357368" "00719" "00472571" "00006" "Familial, autosomal dominant" "" "bilateral sensorineural hearing loss; dysplastic ears; short thumbs, short third toes; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357369" "00719" "00472572" "00006" "Familial, autosomal dominant" "" "anteriorally placed anus, anal stenosis (treated at birth); dysplastic ears; senorineural hearing loss; congenital lamellar cataracts/microphthalmia, right eye smaller than left eye; overlapping toes (II and IV on III); facial asymmetry, right side face smaller than left sid; short thumbs, short third left toe, small nail second right toe; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357370" "00719" "00472573" "00006" "Familial, autosomal dominant" "" "anteriorally placed anus, anal stenosis (treated at birth); dysplastic ears; senorineural hearing loss; congenital lamellar cataracts/microphthalmia, right eye smaller than left eye; overlapping toes (II and IV on III), short squared off toes; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357371" "00719" "00472574" "00006" "Familial, autosomal dominant" "" "hearing loss; short, broad thumbs/short second toes; 50y-bilateral faint lamellar cataracts, dot cortical lens opacities; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357372" "00719" "00472575" "00006" "Isolated (sporadic)" "" "dysplastic ears; preauricular tag; no hearing loss; imperforate anus; preaxial polydactyly both hands, syndactyly second/third toes; 1y-mild developmental delay; 15m-walk; 2y8m-normal mental development, normal speech development; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357373" "00719" "00472576" "00006" "Isolated (sporadic)" "" "18wg-oligohydramnios; 35wg-abnormal kidneys; bilateral dysplastic deep set ears, bilateral preauricular tags, leftsided preauricular pit; narrow left auditory canal; bifid right thumb, adducted left thumb; left sided retinal coloboma; bilateral dimples shoulders/elbows/knees; anteriorly placed anus; hypoplastic kidneys; severe feeding difficulty, G-tube placement, never able to eat orally; gastroesophageal reflux; hiatus hernia; hearing loss, delayed speech; renal failure, renal transplant,, pseudotumor cerebri ;" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357374" "00719" "00472577" "00006" "Isolated (sporadic)" "" "imperforate anus, rectovaginal fistula; impaired renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357375" "00719" "00472578" "00006" "Isolated (sporadic)" "" "birth anal stenosis, mucous crest along anal-scrotal line; unilateral cryptorchidism, unilateral renal agenesis; bilateral triphalangeal thumbs, bilateral overriding fourth on third toes; mildly dysplastic ears; OFC 10th, length 5oth; normal renal function; urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357376" "00719" "00472579" "00006" "Isolated (sporadic)" "" "outer ear malformations; bilateral triphalangeal thumbs; imperforate anus; mild mental retardation; impaired renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357377" "00719" "00472580" "00006" "Familial, autosomal dominant" "" "anal ectopy, stenosis; bilateral triphalangeal thumbs; small dysplastic ears; normal right kidney, left kidney in pelvic position; 3m-mild left-sided hearing loss, right moderate hearing loss; MRI brain normal; 2.5y-normal psychomotor development ; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357378" "00719" "00472581" "00006" "Familial, autosomal dominant" "" "small ears; mild hearing loss; bilateral thumb hypoplasia; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357379" "00719" "00472582" "00006" "Isolated (sporadic)" "" "imperforate anus, recto-vaginal fistula; triphalangeal thumb; preaxial polydactyly right side; dysmorphic, mild hypotelorism, small retroverted ears; 5y-mild mental retardation; mild perceptive hearing loss; both feet long toes, second toe overlapping third; elder sister died shortly after birth (short neck, malformed ears, absence external auditory canal, no thumbs and, malformed radii, esophageal atresia, tetralogy of Fallot, unilateral dysplastic kidney);" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357380" "00719" "00472583" "00006" "Isolated (sporadic)" "" "birth weight 3560 g, length 50 cm, OFC 35 cm; duplicated right thumb, broad left thumb normal terminal phalanx; right preauricular appendix right side; everted, simple ears; anteriorly placed anus; deep presacral dimple; complete cutaneous syndactyly toes III-IV right foot; 2y-normal hearing; mild psychomotor developmental delay;" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357381" "00719" "00472584" "00006" "Familial, autosomal dominant" "" "imperforate anteriorly placed anus; hypoplastic kidneys; vesicoureteral reflux; dysplastic ears, overfolded helices; broad thumb; normal renal function; urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357382" "00719" "00472585" "00006" "Familial, autosomal dominant" "" "anteriorly placed anus; hypoplastic kidneys; vesicoureteral reflux; large ears; broad triphalangeal thumb; normal renal function; urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357383" "00719" "00472586" "00006" "Isolated (sporadic)" "" "anteposition anus; unilateral preauricular tag; normal hearing;" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357384" "00719" "00472587" "00006" "Familial, autosomal dominant" "" "normal birth parameters; imperforate anus; heart murmur, PDA, small ventricular septal defect (3y-closed spontaneously); dysplastic ears; 5y6m-mild bilateral sensorineural hearing loss; broad thumbs, broad great toe, clinodactyly, overlapping second and third toes; pes planus;" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357385" "00719" "00472588" "00006" "Familial, autosomal dominant" "" "duplicated right thumb, broad left thumb, broad great toes; anal dilatation; mild-moderate hearing loss;" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357386" "00719" "00472589" "00006" "Familial, autosomal dominant" "" "birth 27wg; intracerebral haemorrhage; anal atresia; dysplastic ears, overfolded helices; hypospadias; vesicoureteral reflux; bilateral renal dysplasia; right sided club foot; severe psychomotor retardation;" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357387" "00719" "00472590" "00006" "Familial, autosomal dominant" "" "right sided ear tag; anal stenosis; clubfeet; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357388" "00719" "00472591" "00006" "Familial, autosomal dominant" "" "duplicated distal phalanx right thumb; anteriorly positioned anus, anal stenosis; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357389" "00719" "00472592" "00006" "Familial, autosomal dominant" "" "bilateral preaxial polydactyly, left sided triphalangeal thumb; imperforate anus; malformed ears; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357390" "00719" "00472593" "00006" "Familial, autosomal dominant" "" "duplicated right thumb, triphalangeal left thumb; a sacral dimple; imperforate anus; kidney length asymmetry; bilateral overfolded ear helices; asymmetric nipple placement; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357391" "00719" "00472594" "00006" "Familial, autosomal dominant" "" "extra bones in both thumbs; hearing difficulties; normal renal function; no urogenital abnormalities" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357392" "00719" "00472596" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; normal hands; abnormal feet; abnormal ears; normal hearing; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357393" "00719" "00472597" "00006" "Unknown" "" "see paper; ..., normal anus; abnormal hands; normal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357394" "00719" "00472598" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357395" "00719" "00472599" "00006" "Unknown" "" "see paper; ..., normal anus; abnormal hands; normal feet; normal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357396" "00719" "00472600" "00006" "Unknown" "" "see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; urogenital abnormalities; ventricular septal defect" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357397" "00719" "00472601" "00006" "Unknown" "" "see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357398" "00719" "00472602" "00006" "Unknown" "" "see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357399" "00719" "00472603" "00006" "Unknown" "" "see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; abnormality kidneys; impaired renal function; urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357400" "00719" "00472604" "00006" "Unknown" "" "see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357401" "00719" "00472605" "00006" "Unknown" "" "see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; normal hearing; abnormality kidneys; normal renal function; urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357402" "00719" "00472606" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; abnormal hands; normal feet; normal ears; hearing loss; abnormality kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357403" "00719" "00472607" "00006" "Unknown" "" "see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357404" "00719" "00472608" "00006" "Unknown" "" "see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357405" "00719" "00472609" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357406" "00719" "00472610" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357407" "00719" "00472611" "00006" "Unknown" "" "see paper; ..., normal anus; abnormal hands; normal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357408" "00719" "00472612" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; abnormal hands; normal feet; normal ears; hearing loss; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357409" "00719" "00472613" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; normal hands; normal feet; abnormal ears; normal hearing; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357410" "00719" "00472614" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357411" "00719" "00472615" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; normal hearing; normal kidneys; impaired renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357412" "00719" "00472616" "00006" "Familial, autosomal dominant" "" "see paper; ..., normal anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357413" "00719" "00472617" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; normal hands; abnormal feet; normal ears; normal hearing; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357414" "00719" "00472618" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357415" "00719" "00472619" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357416" "00719" "00472620" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357417" "00719" "00472621" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357418" "00719" "00472622" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357419" "00719" "00472623" "00006" "Familial, autosomal dominant" "" "see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357420" "00719" "00472624" "00006" "Unknown" "" "see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; no urogenital abnormalities; normal heart" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357421" "00719" "00472625" "00006" "Unknown" "14y" "see paper; ..., imperforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, rocker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss, hypospadias, bilateral renal hypoplasia, progressive chronic renal failure" "" "" "" "" "" "" "" "" "TBS" "Townes-Brocks syndrome" "" "0000357422" "00719" "00472626" "00006" "Familial, autosomal dominant" "" "see paper; ..., imperforate anus, prominent perineal\r\nmedian raphe, bilateral cutaneous syndactyly third\r\nand fourth toes, bilateral hypoplastic second toes, lop ears, frontal bossing, retrognathia, glandular hypospadias, bilateral hypoplastic and dysplastic kidneys; secundum type atrial septal defect; hearing loss; childhood growth retardation" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357423" "00719" "00472627" "00006" "Unknown" "44y" "see paper; ..., sudden loss of visual acuity, optic neuropathy; imperforate anus; bilateral dysplastic ears, bilateral triphalangeal thumbs, congenital sensorineural deafness; feet operated toe malposition; bilateral partial proximal synostosis metatarsals IV-V, fusion some tarsal bones; bilateral inguinal hernias, umbilical hernia" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357424" "00719" "00472628" "00006" "Familial, autosomal dominant" "" "see paper; ..., bifid thumb left, preaxial polydactyly right side; bilateral, small, dysplastic ears; bilateral moderate-severe conductive hearing loss; bilateral renal hypoplasia, acquired hypothyroidism; anteriorly placed stenotic anus,; hypoplastic third toes with fifth toe clinoactyly" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357425" "00719" "00472629" "00006" "Familial, autosomal dominant" "01y" "see paper; ..., preaxial polydactyly right side, broad left thumb, both thumbs proximally implanted, bilateral cutaneous syndactyly toes III and IV.; dysplastic ears, preauricular tag/pit left side; anus anteriorly placed, anal tag, prominent perineal raphe; normal kidneys; small muscular ventricular septal defect; hearing loss; 1y-psychomotor development mildly delayed" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" "0000357426" "00198" "00472630" "00006" "Familial, autosomal dominant" "" "see paper; ..., relative macrocephaly (OFC 56cm, 97th); everted lower lip; bulbous nasal tip, depressed nasal bridge; bilateral triphalangeal thumbs; arachnodactyly; very long/clawed toes; bilateral pes cavus, wasting of feet/hand muscles; normal ankle reflexes, normal nerve conduction velocity; pes cavus; surgically treated anorectal malformation; renal problems, ureteric stenosis; normal ears, no preauricular tags; learning difficulties" "" "" "" "" "" "" "" "" "TBS1" "Townes-Brocks syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 128 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165297" "00164430" "1" "01807" "01807" "2018-05-17 16:07:10" "" "" "SEQ" "DNA" "" "" "0000292654" "00291486" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317352" "00316170" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000410084" "00408819" "1" "04221" "04221" "2022-04-28 18:12:11" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410085" "00408820" "1" "04221" "04221" "2022-04-28 18:29:02" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410086" "00408821" "1" "04221" "04221" "2022-04-28 18:42:04" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410087" "00408822" "1" "04221" "04221" "2022-04-28 18:57:51" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410088" "00408823" "1" "04221" "04221" "2022-04-28 19:06:06" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410089" "00408824" "1" "04221" "04221" "2022-04-28 19:16:03" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410090" "00408825" "1" "04221" "04221" "2022-04-28 19:22:16" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410254" "00408989" "1" "04221" "04221" "2022-04-29 19:01:20" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000442950" "00441464" "1" "00006" "00006" "2023-11-07 19:52:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442951" "00441465" "1" "00006" "00006" "2023-11-07 19:57:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471202" "00469534" "1" "03544" "03544" "2025-11-16 16:12:40" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000474165" "00472497" "1" "03544" "03544" "2026-02-20 13:15:27" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000474166" "00472498" "1" "03544" "03544" "2026-02-20 13:31:17" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000474180" "00472513" "1" "00006" "00006" "2026-02-23 10:02:54" "" "" "SEQ" "DNA" "" "" "0000474181" "00472514" "1" "00006" "00006" "2026-02-23 13:06:12" "" "" "SEQ" "DNA" "" "" "0000474182" "00472515" "1" "00006" "00006" "2026-02-23 13:12:44" "" "" "SEQ" "DNA" "" "" "0000474183" "00472516" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474184" "00472517" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474185" "00472518" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474186" "00472519" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474187" "00472520" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474188" "00472521" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474189" "00472522" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474190" "00472523" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474191" "00472524" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474192" "00472525" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474193" "00472526" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474194" "00472527" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474195" "00472528" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474196" "00472529" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474197" "00472530" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474198" "00472531" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474199" "00472532" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474200" "00472533" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474201" "00472534" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474202" "00472535" "1" "00006" "00006" "2026-02-23 14:21:41" "" "" "SEQ" "DNA" "" "" "0000474203" "00472536" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474204" "00472537" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474205" "00472538" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474206" "00472539" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474207" "00472540" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474208" "00472541" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474209" "00472542" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474210" "00472543" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474211" "00472544" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474214" "00472547" "1" "00006" "00006" "2026-02-23 15:37:01" "00006" "2026-02-23 16:03:22" "FISH;microscope" "DNA" "" "" "0000474215" "00472548" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474216" "00472549" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474217" "00472550" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474218" "00472551" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474219" "00472552" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474220" "00472553" "1" "00006" "00006" "2026-02-23 15:37:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474221" "00472554" "1" "00006" "00006" "2026-02-23 16:11:45" "" "" "SEQ" "DNA" "" "" "0000474222" "00472555" "1" "00006" "00006" "2026-02-23 16:17:00" "" "" "SEQ" "DNA" "" "" "0000474223" "00472556" "1" "00006" "00006" "2026-02-23 16:23:02" "" "" "SEQ" "DNA" "" "" "0000474224" "00472557" "1" "00006" "00006" "2026-02-23 16:28:51" "" "" "SEQ" "DNA" "" "" "0000474225" "00472558" "1" "00006" "00006" "2026-02-23 16:36:34" "00006" "2026-02-23 16:40:56" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474226" "00472559" "1" "00006" "00006" "2026-02-23 16:39:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474230" "00472563" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474231" "00472564" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474232" "00472565" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474233" "00472566" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474234" "00472567" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474235" "00472568" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474236" "00472569" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474237" "00472570" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474238" "00472571" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474239" "00472572" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474240" "00472573" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474241" "00472574" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474242" "00472575" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474243" "00472576" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474244" "00472577" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474245" "00472578" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474246" "00472579" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474247" "00472580" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474248" "00472581" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474249" "00472582" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474250" "00472583" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474251" "00472584" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474252" "00472585" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474253" "00472586" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474254" "00472587" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474255" "00472588" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474256" "00472589" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474257" "00472590" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474258" "00472591" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474259" "00472592" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474260" "00472593" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474261" "00472594" "1" "00006" "00006" "2026-02-23 19:54:27" "" "" "SEQ" "DNA" "" "" "0000474263" "00472596" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474264" "00472597" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474265" "00472598" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474266" "00472599" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474267" "00472600" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474268" "00472601" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474269" "00472602" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474270" "00472603" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474271" "00472604" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474272" "00472605" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474273" "00472606" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474274" "00472607" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474275" "00472608" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474276" "00472609" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474277" "00472610" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474278" "00472611" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474279" "00472612" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474280" "00472613" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474281" "00472614" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474282" "00472615" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474283" "00472616" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474284" "00472617" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474285" "00472618" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474286" "00472619" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474287" "00472620" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474288" "00472621" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474289" "00472622" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474290" "00472623" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474291" "00472624" "1" "00006" "00006" "2026-02-24 09:20:44" "" "" "SEQ" "DNA" "" "" "0000474292" "00472625" "1" "00006" "00006" "2026-02-24 09:27:52" "" "" "SEQ" "DNA" "" "" "0000474293" "00472626" "1" "00006" "00006" "2026-02-24 09:36:39" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000474294" "00472627" "1" "00006" "00006" "2026-02-24 09:46:17" "" "" "SEQ" "DNA" "" "" "0000474295" "00472628" "1" "00006" "00006" "2026-02-24 09:51:12" "" "" "SEQ" "DNA" "" "" "0000474296" "00472629" "1" "00006" "00006" "2026-02-24 10:08:46" "" "" "SEQ" "DNA" "" "" "0000474297" "00472630" "1" "00006" "00006" "2026-02-24 10:20:34" "" "" "microscope;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 153 "{{screeningid}}" "{{geneid}}" "0000317352" "SALL1" "0000410084" "EYA1" "0000410084" "HOXA2" "0000410084" "SALL1" "0000410084" "TBX1" "0000410084" "TCOF1" "0000410085" "EYA1" "0000410085" "HOXA2" "0000410085" "SALL1" "0000410085" "TBX1" "0000410085" "TCOF1" "0000410086" "EYA1" "0000410086" "HOXA2" "0000410086" "SALL1" "0000410086" "TBX1" "0000410086" "TCOF1" "0000410087" "EYA1" "0000410087" "HOXA2" "0000410087" "SALL1" "0000410087" "TBX1" "0000410087" "TCOF1" "0000410088" "EYA1" "0000410088" "HOXA2" "0000410088" "SALL1" "0000410088" "TBX1" "0000410088" "TCOF1" "0000410089" "EYA1" "0000410089" "HOXA2" "0000410089" "SALL1" "0000410089" "TBX1" "0000410089" "TCOF1" "0000410090" "EYA1" "0000410090" "HOXA2" "0000410090" "SALL1" "0000410090" "TBX1" "0000410090" "TCOF1" "0000410254" "EYA1" "0000410254" "HOXA2" "0000410254" "SALL1" "0000410254" "TBX1" "0000410254" "TCOF1" "0000474180" "SALL1" "0000474181" "SALL1" "0000474182" "SALL1" "0000474183" "SALL1" "0000474184" "SALL1" "0000474185" "SALL1" "0000474186" "SALL1" "0000474187" "SALL1" "0000474188" "SALL1" "0000474189" "SALL1" "0000474190" "SALL1" "0000474191" "SALL1" "0000474192" "SALL1" "0000474193" "SALL1" "0000474194" "SALL1" "0000474195" "SALL1" "0000474196" "SALL1" "0000474197" "SALL1" "0000474198" "SALL1" "0000474199" "SALL1" "0000474200" "SALL1" "0000474201" "SALL1" "0000474202" "SALL1" "0000474203" "SALL1" "0000474204" "SALL1" "0000474205" "SALL1" "0000474206" "SALL1" "0000474207" "SALL1" "0000474208" "SALL1" "0000474209" "SALL1" "0000474210" "SALL1" "0000474211" "SALL1" "0000474214" "SALL1" "0000474215" "SALL1" "0000474216" "SALL1" "0000474217" "SALL1" "0000474218" "SALL1" "0000474219" "SALL1" "0000474220" "SALL1" "0000474221" "SALL1" "0000474222" "SALL1" "0000474223" "SALL1" "0000474224" "SALL1" "0000474225" "SALL1" "0000474226" "SALL1" "0000474230" "SALL1" "0000474231" "SALL1" "0000474232" "SALL1" "0000474233" "SALL1" "0000474234" "SALL1" "0000474235" "SALL1" "0000474236" "SALL1" "0000474237" "SALL1" "0000474238" "SALL1" "0000474239" "SALL1" "0000474240" "SALL1" "0000474241" "SALL1" "0000474242" "SALL1" "0000474243" "SALL1" "0000474244" "SALL1" "0000474245" "SALL1" "0000474246" "SALL1" "0000474247" "SALL1" "0000474248" "SALL1" "0000474249" "SALL1" "0000474250" "SALL1" "0000474251" "SALL1" "0000474252" "SALL1" "0000474253" "SALL1" "0000474254" "SALL1" "0000474255" "SALL1" "0000474256" "SALL1" "0000474257" "SALL1" "0000474258" "SALL1" "0000474259" "SALL1" "0000474260" "SALL1" "0000474261" "SALL1" "0000474263" "SALL1" "0000474264" "SALL1" "0000474265" "SALL1" "0000474266" "SALL1" "0000474267" "SALL1" "0000474268" "SALL1" "0000474269" "SALL1" "0000474270" "SALL1" "0000474271" "SALL1" "0000474272" "SALL1" "0000474273" "SALL1" "0000474274" "SALL1" "0000474275" "SALL1" "0000474276" "SALL1" "0000474277" "SALL1" "0000474278" "SALL1" "0000474279" "SALL1" "0000474280" "SALL1" "0000474281" "SALL1" "0000474282" "SALL1" "0000474283" "SALL1" "0000474284" "SALL1" "0000474285" "SALL1" "0000474286" "SALL1" "0000474287" "SALL1" "0000474288" "SALL1" "0000474289" "SALL1" "0000474290" "SALL1" "0000474291" "SALL1" "0000474292" "SALL1" "0000474293" "SALL1" "0000474294" "SALL1" "0000474295" "SALL1" "0000474296" "SALL1" "0000474297" "SALL1" ## 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 = 291 "{{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}}" "0000297893" "0" "10" "16" "51173559" "51173559" "subst" "0.626762" "02325" "SALL1_000016" "g.51173559G>A" "" "" "" "SALL1(NM_001127892.2):c.2283C>T (p.L761=), SALL1(NM_002968.2):c.2574C>T (p.L858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139648G>A" "" "benign" "" "0000297894" "0" "10" "16" "51171175" "51171175" "subst" "0.997125" "02325" "SALL1_000005" "g.51171175C>T" "" "" "" "SALL1(NM_001127892.2):c.3532G>A (p.V1178I), SALL1(NM_002968.2):c.3823G>A (p.V1275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137264C>T" "" "benign" "" "0000301636" "0" "10" "16" "51173559" "51173559" "subst" "0.626762" "02326" "SALL1_000016" "g.51173559G>A" "" "" "" "SALL1(NM_001127892.2):c.2283C>T (p.L761=), SALL1(NM_002968.2):c.2574C>T (p.L858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139648G>A" "" "benign" "" "0000301637" "0" "30" "16" "51175898" "51175898" "subst" "0.00508608" "02326" "SALL1_000048" "g.51175898C>G" "" "" "" "SALL1(NM_001127892.1):c.-57G>C (p.(=)), SALL1(NM_002968.2):c.235G>C (p.A79P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141987C>G" "" "likely benign" "" "0000301638" "0" "10" "16" "51171175" "51171175" "subst" "0.997125" "02326" "SALL1_000005" "g.51171175C>T" "" "" "" "SALL1(NM_001127892.2):c.3532G>A (p.V1178I), SALL1(NM_002968.2):c.3823G>A (p.V1275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137264C>T" "" "benign" "" "0000301639" "0" "10" "16" "51171126" "51171126" "subst" "0.0102827" "02326" "SALL1_000004" "g.51171126T>C" "" "" "" "SALL1(NM_001127892.1):c.3581A>G (p.(Asn1194Ser)), SALL1(NM_002968.2):c.3872A>G (p.N1291S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137215T>C" "" "benign" "" "0000307652" "0" "90" "16" "51175005" "51175005" "del" "0" "01943" "SALL1_000030" "g.51175005del" "" "" "" "SALL1(NM_002968.2):c.1128delA (p.A377Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141094del" "" "pathogenic" "" "0000307653" "0" "90" "16" "51174835" "51174844" "del" "0" "01943" "SALL1_000026" "g.51174835_51174844del" "" "" "" "SALL1(NM_002968.2):c.1292_1301delCAAATGTCAC (p.P431Lfs*59)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140924_51140933del" "" "pathogenic" "" "0000307654" "0" "90" "16" "51174740" "51174740" "subst" "0" "01943" "SALL1_000025" "g.51174740G>A" "" "" "" "SALL1(NM_002968.2):c.1393C>T (p.Q465*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140829G>A" "" "pathogenic" "" "0000307656" "0" "90" "16" "51174620" "51174620" "subst" "0" "01943" "SALL1_000023" "g.51174620G>T" "" "" "" "SALL1(NM_002968.2):c.1513C>A (p.H505N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140709G>T" "" "pathogenic" "" "0000307657" "0" "90" "16" "51174300" "51174313" "del" "0" "01943" "SALL1_000021" "g.51174300_51174313del" "" "" "" "SALL1(NM_002968.2):c.1821_1834delGCTCCCAGAGGAAG (p.L608Rfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140389_51140402del" "" "pathogenic" "" "0000307658" "0" "10" "16" "51175683" "51175685" "del" "0" "01943" "SALL1_000040" "g.51175683_51175685del" "" "" "" "SALL1(NM_001127892.1):c.184_186del (p.(Ser62del)), SALL1(NM_002968.2):c.475_477delAGC (p.S159del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141772_51141774del" "" "benign" "" "0000307660" "0" "90" "16" "51175927" "51175927" "del" "0" "01943" "SALL1_000049" "g.51175927del" "" "" "" "SALL1(NM_002968.2):c.207delA (p.Q69Hfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51142016del" "" "pathogenic" "" "0000307661" "0" "10" "16" "51173955" "51173955" "subst" "0.0141065" "01943" "SALL1_000020" "g.51173955C>T" "" "" "" "SALL1(NM_002968.2):c.2178G>A (p.R726=), SALL1(NM_002968.3):c.2178G>A (p.(Arg726=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140044C>T" "" "benign" "" "0000307662" "0" "50" "16" "51173858" "51173858" "subst" "8.93328E-5" "01943" "SALL1_000019" "g.51173858T>C" "" "" "" "SALL1(NM_002968.2):c.2275A>G (p.M759V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139947T>C" "" "VUS" "" "0000307663" "0" "10" "16" "51173559" "51173559" "subst" "0.626762" "01943" "SALL1_000016" "g.51173559G>A" "" "" "" "SALL1(NM_001127892.2):c.2283C>T (p.L761=), SALL1(NM_002968.2):c.2574C>T (p.L858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139648G>A" "" "benign" "" "0000307664" "0" "10" "16" "51173790" "51173790" "subst" "0.0125674" "01943" "SALL1_000018" "g.51173790C>G" "" "" "" "SALL1(NM_002968.2):c.2343G>C (p.L781=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139879C>G" "" "benign" "" "0000307665" "0" "10" "16" "51173589" "51173589" "subst" "0.0092264" "01943" "SALL1_000017" "g.51173589T>C" "" "" "" "SALL1(NM_002968.2):c.2544A>G (p.Q848=), SALL1(NM_002968.3):c.2544A>G (p.(Gln848=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139678T>C" "" "benign" "" "0000307666" "0" "90" "16" "51173231" "51173231" "del" "0" "01943" "SALL1_000014" "g.51173231del" "" "" "" "SALL1(NM_002968.2):c.2905delG (p.A969Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139320del" "" "pathogenic" "" "0000307667" "0" "10" "16" "51175841" "51175841" "subst" "0.00111693" "01943" "SALL1_000047" "g.51175841T>C" "" "" "" "SALL1(NM_002968.2):c.292A>G (p.M98V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141930T>C" "" "benign" "" "0000307668" "0" "30" "16" "51172823" "51172823" "subst" "0.000483249" "01943" "SALL1_000012" "g.51172823G>C" "" "" "" "SALL1(NM_001127892.1):c.3019C>G (p.P1007A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51138912G>C" "" "likely benign" "" "0000307669" "0" "10" "16" "51172911" "51172911" "subst" "0.001799" "01943" "SALL1_000013" "g.51172911C>T" "" "" "" "SALL1(NM_002968.2):c.3222G>A (p.A1074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139000C>T" "" "benign" "" "0000307670" "0" "10" "16" "51172677" "51172677" "subst" "0.183977" "01943" "SALL1_000011" "g.51172677G>A" "" "" "" "SALL1(NM_002968.2):c.3456C>T (p.H1152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51138766G>A" "" "benign" "" "0000307671" "0" "50" "16" "51171367" "51171367" "subst" "7.32303E-5" "01943" "SALL1_000010" "g.51171367C>T" "" "" "" "SALL1(NM_001127892.1):c.3340G>A (p.V1114I), SALL1(NM_002968.3):c.3631G>A (p.V1211I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137456C>T" "" "VUS" "" "0000307672" "0" "50" "16" "51171071" "51171071" "subst" "1.21825E-5" "01943" "SALL1_000002" "g.51171071G>T" "" "" "" "SALL1(NM_001127892.1):c.3636C>A (p.F1212L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137160G>T" "" "VUS" "" "0000307673" "0" "50" "16" "51171333" "51171333" "subst" "8.12341E-5" "01943" "SALL1_000009" "g.51171333G>A" "" "" "" "SALL1(NM_002968.2):c.3665C>T (p.A1222V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137422G>A" "" "VUS" "" "0000307675" "0" "10" "16" "51171126" "51171126" "subst" "0.0102827" "01943" "SALL1_000004" "g.51171126T>C" "" "" "" "SALL1(NM_001127892.1):c.3581A>G (p.(Asn1194Ser)), SALL1(NM_002968.2):c.3872A>G (p.N1291S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137215T>C" "" "benign" "" "0000307676" "0" "30" "16" "51171083" "51171083" "subst" "0.00130758" "01943" "SALL1_000003" "g.51171083G>A" "" "" "" "SALL1(NM_001127892.1):c.3624C>T (p.N1208=), SALL1(NM_002968.2):c.3915C>T (p.N1305=), SALL1(NM_002968.3):c.3915C>T (p.(Asn1305=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137172G>A" "" "likely benign" "" "0000307677" "0" "10" "16" "51175658" "51175658" "subst" "0" "01943" "SALL1_000043" "g.51175658T>C" "" "" "" "SALL1(NM_002968.2):c.475A>G (p.S159G, p.(Ser159Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141747T>C" "" "benign" "" "0000307678" "0" "10" "16" "51185050" "51185051" "del" "0" "01943" "SALL1_000050" "g.51185050_51185051del" "" "" "" "SALL1(NM_002968.2):c.76+36_76+37delAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51151139_51151140del" "" "benign" "" "0000307679" "0" "50" "16" "51175346" "51175346" "subst" "9.34018E-5" "01943" "SALL1_000034" "g.51175346C>A" "" "" "" "SALL1(NM_001127892.1):c.496G>T (p.(Asp166Tyr)), SALL1(NM_002968.2):c.787G>T (p.D263Y), SALL1(NM_002968.3):c.787G>T (p.D263Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141435C>A" "" "VUS" "" "0000307680" "0" "10" "16" "51175324" "51175324" "subst" "0.00152292" "01943" "SALL1_000033" "g.51175324G>A" "" "" "" "SALL1(NM_001127892.1):c.518C>T (p.(Pro173Leu)), SALL1(NM_002968.2):c.809C>T (p.P270L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141413G>A" "" "benign" "" "0000307681" "0" "50" "16" "51175219" "51175219" "subst" "4.06078E-6" "01943" "SALL1_000032" "g.51175219C>T" "" "" "" "SALL1(NM_002968.2):c.914G>A (p.S305N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141308C>T" "" "VUS" "" "0000307682" "0" "90" "16" "51175176" "51175176" "del" "0" "01943" "SALL1_000031" "g.51175176del" "" "" "" "SALL1(NM_002968.2):c.958delC (p.Q320Sfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141265del" "" "pathogenic" "" "0000324761" "0" "30" "16" "51171126" "51171126" "subst" "0.0102827" "01804" "SALL1_000004" "g.51171126T>C" "" "" "" "SALL1(NM_001127892.1):c.3581A>G (p.(Asn1194Ser)), SALL1(NM_002968.2):c.3872A>G (p.N1291S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137215T>C" "" "likely benign" "" "0000324762" "0" "30" "16" "51171204" "51171204" "subst" "0.00144963" "01804" "SALL1_000007" "g.51171204C>T" "" "" "" "SALL1(NM_001127892.1):c.3503G>A (p.G1168E, p.(Gly1168Glu)), SALL1(NM_002968.2):c.3794G>A (p.G1265E), SALL1(NM_002968.3):c.3794G>A (p.G1265E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137293C>T" "" "likely benign" "" "0000324763" "0" "50" "16" "51171226" "51171226" "subst" "2.03037E-5" "01804" "SALL1_000008" "g.51171226C>T" "" "" "" "SALL1(NM_001127892.1):c.3481G>A (p.(Gly1161Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137315C>T" "" "VUS" "" "0000324764" "0" "50" "16" "51173317" "51173317" "subst" "1.21887E-5" "01804" "SALL1_000015" "g.51173317T>C" "" "" "" "SALL1(NM_001127892.1):c.2525A>G (p.(His842Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139406T>C" "" "VUS" "" "0000324765" "0" "50" "16" "51174598" "51174598" "subst" "0" "01804" "SALL1_000022" "g.51174598G>A" "" "" "" "SALL1(NM_001127892.1):c.1244C>T (p.(Pro415Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140687G>A" "" "VUS" "" "0000324766" "0" "50" "16" "51174833" "51174833" "subst" "2.03029E-5" "01804" "SALL1_000027" "g.51174833T>C" "" "" "" "SALL1(NM_001127892.1):c.1009A>G (p.(Thr337Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140922T>C" "" "VUS" "" "0000324767" "0" "50" "16" "51174876" "51174876" "subst" "1.21818E-5" "01804" "SALL1_000028" "g.51174876C>A" "" "" "" "SALL1(NM_001127892.1):c.966G>T (p.(Leu322Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140965C>A" "" "VUS" "" "0000324768" "0" "30" "16" "51175655" "51175655" "subst" "0" "01804" "SALL1_000037" "g.51175655C>T" "" "" "" "SALL1(NM_001127892.1):c.187G>A (p.(Gly63Ser)), SALL1(NM_002968.2):c.478G>A (p.G160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141744C>T" "" "likely benign" "" "0000324769" "0" "50" "16" "51175677" "51175685" "dup" "0" "01804" "SALL1_000038" "g.51175677_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.186_187insAGCAGCAGC (p.(Ser60_Ser62dup)), SALL1(NM_001127892.2):c.172_180dupAGCAGCAGC (p.S60_S62dup), SALL1(NM_002968.2):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141766_51141774dup" "" "VUS" "" "0000324770" "0" "30" "16" "51175657" "51175658" "ins" "0" "01804" "SALL1_000039" "g.51175657_51175658insCGCTGC" "" "" "" "SALL1(NM_001127892.1):c.184_185insGCAGCG (p.(Ser62_Gly63insSerGly)), SALL1(NM_001127892.2):c.186_187insAGCGGC (p.S62_G63insSG)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141746_51141747insCGCTGC" "" "likely benign" "" "0000324771" "0" "30" "16" "51175683" "51175685" "del" "0" "01804" "SALL1_000040" "g.51175683_51175685del" "" "" "" "SALL1(NM_001127892.1):c.184_186del (p.(Ser62del)), SALL1(NM_002968.2):c.475_477delAGC (p.S159del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141772_51141774del" "" "likely benign" "" "0000324772" "0" "30" "16" "51175677" "51175685" "del" "0" "01804" "SALL1_000041" "g.51175677_51175685del" "" "" "" "SALL1(NM_001127892.1):c.178_186del (p.(Ser60_Ser62del)), SALL1(NM_001127892.2):c.178_186delAGCAGCAGC (p.S60_S62del), SALL1(NM_002968.2):c.469_477de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141766_51141774del" "" "likely benign" "" "0000324774" "0" "50" "16" "51175661" "51175661" "subst" "0" "01804" "SALL1_000044" "g.51175661T>C" "" "" "" "SALL1(NM_001127892.1):c.181A>G (p.(Ser61Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141750T>C" "" "VUS" "" "0000324776" "0" "50" "16" "51175744" "51175744" "subst" "0.00023148" "01804" "SALL1_000046" "g.51175744G>A" "" "" "" "SALL1(NM_001127892.1):c.98C>T (p.(Pro33Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141833G>A" "" "VUS" "" "0000324777" "0" "30" "16" "51175898" "51175898" "subst" "0.00508608" "01804" "SALL1_000048" "g.51175898C>G" "" "" "" "SALL1(NM_001127892.1):c.-57G>C (p.(=)), SALL1(NM_002968.2):c.235G>C (p.A79P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141987C>G" "" "likely benign" "" "0000340224" "0" "10" "16" "51172677" "51172677" "subst" "0.183977" "02327" "SALL1_000011" "g.51172677G>A" "" "" "" "SALL1(NM_002968.2):c.3456C>T (p.H1152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51138766G>A" "" "benign" "" "0000340866" "0" "10" "16" "51173559" "51173559" "subst" "0.626762" "02327" "SALL1_000016" "g.51173559G>A" "" "" "" "SALL1(NM_001127892.2):c.2283C>T (p.L761=), SALL1(NM_002968.2):c.2574C>T (p.L858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139648G>A" "" "benign" "" "0000350264" "0" "10" "16" "51171175" "51171175" "subst" "0.997125" "02327" "SALL1_000005" "g.51171175C>T" "" "" "" "SALL1(NM_001127892.2):c.3532G>A (p.V1178I), SALL1(NM_002968.2):c.3823G>A (p.V1275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137264C>T" "" "benign" "" "0000368956" "0" "70" "16" "51172696" "51172696" "subst" "0" "01807" "SALL1_000052" "g.51172696G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.51138785G>T" "" "likely pathogenic" "" "0000558373" "0" "10" "16" "51170940" "51170944" "dup" "0" "01943" "SALL1_000053" "g.51170940_51170944dup" "" "" "" "SALL1(NM_002968.2):c.*88_*92dupGCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51137029_51137033dup" "" "benign" "" "0000558375" "0" "50" "16" "51171204" "51171204" "subst" "0.00144963" "01943" "SALL1_000007" "g.51171204C>T" "" "" "" "SALL1(NM_001127892.1):c.3503G>A (p.G1168E, p.(Gly1168Glu)), SALL1(NM_002968.2):c.3794G>A (p.G1265E), SALL1(NM_002968.3):c.3794G>A (p.G1265E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51137293C>T" "" "VUS" "" "0000558376" "0" "50" "16" "51171324" "51171324" "subst" "0" "02327" "SALL1_000054" "g.51171324G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51137413G>C" "" "VUS" "" "0000558377" "0" "50" "16" "51172802" "51172802" "subst" "0" "01943" "SALL1_000055" "g.51172802C>T" "" "" "" "SALL1(NM_002968.2):c.3331G>A (p.G1111R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51138891C>T" "" "VUS" "" "0000558378" "0" "30" "16" "51173514" "51173514" "subst" "1.62529E-5" "01804" "SALL1_000056" "g.51173514G>C" "" "" "" "SALL1(NM_001127892.1):c.2328C>G (p.(Ile776Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51139603G>C" "" "likely benign" "" "0000558380" "0" "30" "16" "51173622" "51173622" "subst" "2.43635E-5" "01943" "SALL1_000058" "g.51173622G>T" "" "" "" "SALL1(NM_001127892.1):c.2220C>A (p.I740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51139711G>T" "" "likely benign" "" "0000558381" "0" "30" "16" "51174167" "51174167" "subst" "0" "01943" "SALL1_000059" "g.51174167T>C" "" "" "" "SALL1(NM_001127892.1):c.1675A>G (p.T559A), SALL1(NM_002968.2):c.1966A>G (p.(Thr656Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140256T>C" "" "likely benign" "" "0000558382" "0" "30" "16" "51174226" "51174226" "subst" "0.000110007" "01804" "SALL1_000060" "g.51174226G>A" "" "" "" "SALL1(NM_001127892.1):c.1616C>T (p.(Thr539Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140315G>A" "" "likely benign" "" "0000558383" "0" "30" "16" "51174229" "51174229" "subst" "0.0033163" "01943" "SALL1_000061" "g.51174229G>A" "" "" "" "SALL1(NM_001127892.1):c.1613C>T (p.P538L), SALL1(NM_002968.3):c.1904C>T (p.(Pro635Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140318G>A" "" "likely benign" "" "0000558384" "0" "30" "16" "51174229" "51174229" "subst" "0.0033163" "01804" "SALL1_000061" "g.51174229G>A" "" "" "" "SALL1(NM_001127892.1):c.1613C>T (p.P538L), SALL1(NM_002968.3):c.1904C>T (p.(Pro635Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140318G>A" "" "likely benign" "" "0000558385" "0" "30" "16" "51174255" "51174255" "subst" "0.00404903" "01943" "SALL1_000062" "g.51174255C>G" "" "" "" "SALL1(NM_001127892.1):c.1587G>C (p.(Glu529Asp)), SALL1(NM_002968.2):c.1878G>C (p.E626D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140344C>G" "" "likely benign" "" "0000558386" "0" "30" "16" "51174255" "51174255" "subst" "0.00404903" "01804" "SALL1_000062" "g.51174255C>G" "" "" "" "SALL1(NM_001127892.1):c.1587G>C (p.(Glu529Asp)), SALL1(NM_002968.2):c.1878G>C (p.E626D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140344C>G" "" "likely benign" "" "0000558387" "0" "50" "16" "51174410" "51174410" "subst" "0" "01804" "SALL1_000063" "g.51174410G>A" "" "" "" "SALL1(NM_002968.2):c.1723C>T (p.(Pro575Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140499G>A" "" "VUS" "" "0000558389" "0" "90" "16" "51174647" "51174647" "dup" "0" "01943" "SALL1_000065" "g.51174647dup" "" "" "" "SALL1(NM_002968.2):c.1488dupT (p.Q497Sfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140736dup" "" "pathogenic" "" "0000558390" "0" "30" "16" "51174811" "51174811" "subst" "0.000337026" "01804" "SALL1_000066" "g.51174811G>T" "" "" "" "SALL1(NM_001127892.1):c.1031C>A (p.(Thr344Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140900G>T" "" "likely benign" "" "0000558391" "0" "50" "16" "51174898" "51174898" "subst" "0" "02325" "SALL1_000067" "g.51174898G>A" "" "" "" "SALL1(NM_001127892.2):c.944C>T (p.T315I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140987G>A" "" "VUS" "" "0000558392" "0" "90" "16" "51175021" "51175021" "subst" "0" "01943" "SALL1_000068" "g.51175021G>C" "" "" "" "SALL1(NM_002968.2):c.1112C>G (p.S371*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141110G>C" "" "pathogenic" "" "0000558393" "0" "50" "16" "51175084" "51175084" "subst" "0" "01943" "SALL1_000069" "g.51175084G>T" "" "" "" "SALL1(NM_001127892.1):c.758C>A (p.T253N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141173G>T" "" "VUS" "" "0000558394" "0" "50" "16" "51175288" "51175288" "subst" "0" "01804" "SALL1_000070" "g.51175288A>C" "" "" "" "SALL1(NM_001127892.1):c.554T>G (p.(Leu185Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141377A>C" "" "VUS" "" "0000558395" "0" "90" "16" "51175307" "51175307" "subst" "0" "01943" "SALL1_000071" "g.51175307G>A" "" "" "" "SALL1(NM_002968.2):c.826C>T (p.R276*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141396G>A" "" "pathogenic" "" "0000558396" "0" "30" "16" "51175324" "51175324" "subst" "0.00152292" "01804" "SALL1_000033" "g.51175324G>A" "" "" "" "SALL1(NM_001127892.1):c.518C>T (p.(Pro173Leu)), SALL1(NM_002968.2):c.809C>T (p.P270L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141413G>A" "" "likely benign" "" "0000558397" "0" "30" "16" "51175596" "51175596" "subst" "0.0012388" "01943" "SALL1_000072" "g.51175596G>A" "" "" "" "SALL1(NM_001127892.1):c.246C>T (p.L82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141685G>A" "" "likely benign" "" "0000558399" "0" "50" "16" "51175655" "51175657" "dup" "0" "02325" "SALL1_000074" "g.51175655_51175657dup" "" "" "" "SALL1(NM_001127892.2):c.196_198dupGGC (p.G66dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141744_51141746dup" "" "VUS" "" "0000558404" "0" "30" "16" "51175677" "51175685" "del" "0" "01943" "SALL1_000041" "g.51175677_51175685del" "" "" "" "SALL1(NM_001127892.1):c.178_186del (p.(Ser60_Ser62del)), SALL1(NM_001127892.2):c.178_186delAGCAGCAGC (p.S60_S62del), SALL1(NM_002968.2):c.469_477de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141766_51141774del" "" "likely benign" "" "0000558405" "0" "30" "16" "51175677" "51175685" "del" "0" "02325" "SALL1_000041" "g.51175677_51175685del" "" "" "" "SALL1(NM_001127892.1):c.178_186del (p.(Ser60_Ser62del)), SALL1(NM_001127892.2):c.178_186delAGCAGCAGC (p.S60_S62del), SALL1(NM_002968.2):c.469_477de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141766_51141774del" "" "likely benign" "" "0000558406" "0" "10" "16" "51175677" "51175685" "dup" "0" "02325" "SALL1_000038" "g.51175677_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.186_187insAGCAGCAGC (p.(Ser60_Ser62dup)), SALL1(NM_001127892.2):c.172_180dupAGCAGCAGC (p.S60_S62dup), SALL1(NM_002968.2):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141766_51141774dup" "" "benign" "" "0000558407" "0" "30" "16" "51175677" "51175685" "dup" "0" "02326" "SALL1_000038" "g.51175677_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.186_187insAGCAGCAGC (p.(Ser60_Ser62dup)), SALL1(NM_001127892.2):c.172_180dupAGCAGCAGC (p.S60_S62dup), SALL1(NM_002968.2):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141766_51141774dup" "" "likely benign" "" "0000558409" "0" "10" "16" "51175680" "51175685" "dup" "0" "01943" "SALL1_000079" "g.51175680_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.181_186dupAGCAGC (p.S61_S62dup), SALL1(NM_001127892.1):c.183_184insAGCAGC (p.(Ser61_Ser62dup)), SALL1(NM_002968.2):c.466_47..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141769_51141774dup" "" "benign" "" "0000558410" "0" "10" "16" "51175683" "51175685" "dup" "0" "01943" "SALL1_000080" "g.51175683_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.178_180dup (p.(Ser62dup)), SALL1(NM_001127892.2):c.184_186dupAGC (p.S62dup), SALL1(NM_002968.2):c.475_477dupAGC (p.S159dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141772_51141774dup" "" "benign" "" "0000558411" "0" "10" "16" "51175683" "51175685" "dup" "0" "02325" "SALL1_000080" "g.51175683_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.178_180dup (p.(Ser62dup)), SALL1(NM_001127892.2):c.184_186dupAGC (p.S62dup), SALL1(NM_002968.2):c.475_477dupAGC (p.S159dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141772_51141774dup" "" "benign" "" "0000558412" "0" "10" "16" "51175683" "51175685" "dup" "0" "02326" "SALL1_000080" "g.51175683_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.178_180dup (p.(Ser62dup)), SALL1(NM_001127892.2):c.184_186dupAGC (p.S62dup), SALL1(NM_002968.2):c.475_477dupAGC (p.S159dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141772_51141774dup" "" "benign" "" "0000558413" "0" "30" "16" "51175722" "51175722" "subst" "0.0004022" "01943" "SALL1_000081" "g.51175722G>A" "" "" "" "SALL1(NM_001127892.1):c.120C>T (p.S40=), SALL1(NM_002968.2):c.411C>T (p.S137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141811G>A" "" "likely benign" "" "0000616026" "0" "50" "16" "51173795" "51173795" "subst" "0" "01943" "SALL1_000082" "g.51173795C>A" "" "" "" "SALL1(NM_002968.2):c.2338G>T (p.V780F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51139884C>A" "" "VUS" "" "0000616027" "0" "30" "16" "51173801" "51173801" "subst" "8.12117E-6" "01804" "SALL1_000083" "g.51173801C>T" "" "" "" "SALL1(NM_001127892.1):c.2041G>A (p.(Ala681Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51139890C>T" "" "likely benign" "" "0000616028" "0" "50" "16" "51175542" "51175542" "subst" "2.43643E-5" "02327" "SALL1_000084" "g.51175542G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141631G>A" "" "VUS" "" "0000616029" "0" "30" "16" "51175657" "51175658" "ins" "0" "02325" "SALL1_000039" "g.51175657_51175658insCGCTGC" "" "" "" "SALL1(NM_001127892.1):c.184_185insGCAGCG (p.(Ser62_Gly63insSerGly)), SALL1(NM_001127892.2):c.186_187insAGCGGC (p.S62_G63insSG)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141746_51141747insCGCTGC" "" "likely benign" "" "0000616030" "0" "30" "16" "51175683" "51175685" "dup" "0" "01804" "SALL1_000080" "g.51175683_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.178_180dup (p.(Ser62dup)), SALL1(NM_001127892.2):c.184_186dupAGC (p.S62dup), SALL1(NM_002968.2):c.475_477dupAGC (p.S159dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141772_51141774dup" "" "likely benign" "" "0000616031" "0" "90" "16" "51175693" "51175693" "dup" "0" "02327" "SALL1_000085" "g.51175693dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141782dup" "" "pathogenic" "" "0000616032" "0" "30" "16" "51176004" "51176004" "subst" "0.000549513" "01943" "SALL1_000086" "g.51176004G>A" "" "" "" "SALL1(NM_002968.2):c.129C>T (p.H43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51142093G>A" "" "likely benign" "" "0000649343" "1" "30" "16" "51171204" "51171204" "subst" "0.00144963" "03575" "SALL1_000007" "g.51171204C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs149302006}" "Germline" "" "rs149302006" "0" "" "" "g.51137293C>T" "" "likely benign" "" "0000657866" "0" "10" "16" "51175743" "51175743" "subst" "0.00912081" "01943" "SALL1_000087" "g.51175743C>T" "" "" "" "SALL1(NM_002968.2):c.390G>A (p.P130=), SALL1(NM_002968.3):c.390G>A (p.(Pro130=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141832C>T" "" "benign" "" "0000657867" "0" "30" "16" "51175894" "51175894" "subst" "3.25005E-5" "01804" "SALL1_000088" "g.51175894G>T" "" "" "" "SALL1(NM_001127892.1):c.-53C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141983G>T" "" "likely benign" "" "0000680594" "0" "50" "16" "51171081" "51171081" "subst" "0" "01943" "SALL1_000089" "g.51171081C>T" "" "" "" "SALL1(NM_001127892.1):c.3626G>A (p.G1209E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692082" "0" "30" "16" "51171204" "51171204" "subst" "0.00144963" "02325" "SALL1_000007" "g.51171204C>T" "" "" "" "SALL1(NM_001127892.1):c.3503G>A (p.G1168E, p.(Gly1168Glu)), SALL1(NM_002968.2):c.3794G>A (p.G1265E), SALL1(NM_002968.3):c.3794G>A (p.G1265E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692083" "0" "30" "16" "51175346" "51175346" "subst" "9.34018E-5" "01804" "SALL1_000034" "g.51175346C>A" "" "" "" "SALL1(NM_001127892.1):c.496G>T (p.(Asp166Tyr)), SALL1(NM_002968.2):c.787G>T (p.D263Y), SALL1(NM_002968.3):c.787G>T (p.D263Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692084" "0" "30" "16" "51175680" "51175685" "dup" "0" "02326" "SALL1_000079" "g.51175680_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.181_186dupAGCAGC (p.S61_S62dup), SALL1(NM_001127892.1):c.183_184insAGCAGC (p.(Ser61_Ser62dup)), SALL1(NM_002968.2):c.466_47..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692085" "0" "10" "16" "51175680" "51175685" "dup" "0" "02325" "SALL1_000079" "g.51175680_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.181_186dupAGCAGC (p.S61_S62dup), SALL1(NM_001127892.1):c.183_184insAGCAGC (p.(Ser61_Ser62dup)), SALL1(NM_002968.2):c.466_47..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692086" "0" "30" "16" "51176024" "51176024" "subst" "8.1487E-6" "01943" "SALL1_000090" "g.51176024T>A" "" "" "" "SALL1(NM_002968.2):c.109A>T (p.T37S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699876" "0" "70" "16" "51171227" "51171227" "subst" "0" "00006" "SALL1_000091" "g.51171227G>C" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.51137316G>C" "" "VUS" "" "0000725829" "0" "30" "16" "51171367" "51171367" "subst" "7.32303E-5" "02325" "SALL1_000010" "g.51171367C>T" "" "" "" "SALL1(NM_001127892.1):c.3340G>A (p.V1114I), SALL1(NM_002968.3):c.3631G>A (p.V1211I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725830" "0" "30" "16" "51175677" "51175685" "del" "0" "02326" "SALL1_000041" "g.51175677_51175685del" "" "" "" "SALL1(NM_001127892.1):c.178_186del (p.(Ser60_Ser62del)), SALL1(NM_001127892.2):c.178_186delAGCAGCAGC (p.S60_S62del), SALL1(NM_002968.2):c.469_477de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725831" "0" "30" "16" "51175913" "51175913" "subst" "0.000162554" "01943" "SALL1_000092" "g.51175913C>T" "" "" "" "SALL1(NM_002968.2):c.220G>A (p.V74I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807437" "0" "50" "16" "51171055" "51171055" "subst" "1.21839E-5" "01943" "SALL1_000093" "g.51171055C>T" "" "" "" "SALL1(NM_001127892.1):c.3652G>A (p.V1218M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807438" "0" "50" "16" "51175852" "51175852" "subst" "0" "01943" "SALL1_000094" "g.51175852G>A" "" "" "" "SALL1(NM_002968.2):c.281C>T (p.P94L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000847333" "11" "10" "16" "51175723" "51175734" "dup" "0" "04221" "SALL1_000096" "g.51175723_51175734dup" "1/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "" "" "ACMG BS1, BS2, PP3" "Germline" "no" "rs750817837" "0" "" "" "g.51141812_51141823dup" "" "benign (dominant)" "ACMG" "0000847334" "1" "10" "16" "51175658" "51175658" "subst" "0" "04221" "SALL1_000043" "g.51175658T>C" "4/49 patients (4 heterozygous)" "{PMID:Estandia-Ortega 2022:36362878}" "" "" "ACMG BA1, BP1, BP4, BP6" "Germline/De novo (untested)" "?" "rs13336129" "0" "" "" "g.51141747T>C" "VCV000258875.3" "benign" "ACMG" "0000847335" "1" "10" "16" "51175656" "51175658" "del" "0" "04221" "SALL1_000040" "g.51175656_51175658del" "5/49 patients (5 heterozygous)" "{PMID:Estandia-Ortega 2022:36362878}" "" "" "ACMG BS1, BS2, PP3" "Germline" "no" "rs113614842" "0" "" "" "g.51141772_51141774del" "" "benign (dominant)" "ACMG" "0000847336" "1" "30" "16" "51173329" "51173329" "subst" "3.65583E-5" "04221" "SALL1_000095" "g.51173329G>A" "1/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "CviAII+, FatI+, HpyCH4V+, NlaIII+, NspI+, SphI+" "" "ACMG BS1, BS2, BP1, BP4" "Germline/De novo (untested)" "" "rs755926434" "0" "" "" "g.51139418G>A" "" "likely benign" "ACMG" "0000847337" "1" "10" "16" "51171204" "51171204" "subst" "0.00144963" "04221" "SALL1_000007" "g.51171204C>T" "1/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "Hpy188III+, BslI-, BstNI-, PflMI-, PspGI-, ScrFI-, StyD4I-" "" "ACMG BS1, BS2, BP1, BP6, PP3" "Germline/De novo (untested)" "?" "rs149302006" "0" "" "" "g.51137293C>T" "VCV000288122.8" "benign" "ACMG" "0000847338" "3" "10" "16" "51171175" "51171175" "subst" "0.997125" "04221" "SALL1_000005" "g.51171175C>T" "49/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "" "" "ACMG/AMP criteria: BA1." "Germline" "?" "rs4614723" "0" "" "" "g.51137264C>T" "VCV000258871.9" "benign" "ACMG" "0000847339" "0" "10" "16" "51171126" "51171126" "subst" "0.0102827" "04221" "SALL1_000004" "g.51171126T>C" "1/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "BmrI+, BsiHKAI+, BsrI+, BtsIMutI+, TspRI+" "" "ACMG BS1, BS2, BP1, BP4, BP6" "Germline/De novo (untested)" "" "rs74499562" "0" "" "" "g.51137215T>C" "VCV000218510.10" "benign" "ACMG" "0000847530" "3" "10" "16" "51173559" "51173559" "subst" "0.626762" "04221" "SALL1_000016" "g.51173559G>A" "41/49 patients (18 heterozygous, 23 homozygous)" "" "BpuEI+, AvaI-, BsoBI-, Hpy188III-, PaeR7I-, XhoI-" "" "" "Germline/De novo (untested)" "?" "rs1965024" "0" "" "" "g.51139648G>A" "VCV000258866.12" "benign" "ACMG" "0000854538" "0" "30" "16" "51175584" "51175584" "subst" "6.49804E-5" "01943" "SALL1_000097" "g.51175584T>C" "" "" "" "SALL1(NM_001127892.1):c.258A>G (p.T86=), SALL1(NM_002968.3):c.549A>G (p.(Thr183=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854539" "0" "10" "16" "51175683" "51175685" "del" "0" "02326" "SALL1_000040" "g.51175683_51175685del" "" "" "" "SALL1(NM_001127892.1):c.184_186del (p.(Ser62del)), SALL1(NM_002968.2):c.475_477delAGC (p.S159del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854540" "0" "30" "16" "51175722" "51175722" "subst" "0.0004022" "02326" "SALL1_000081" "g.51175722G>A" "" "" "" "SALL1(NM_001127892.1):c.120C>T (p.S40=), SALL1(NM_002968.2):c.411C>T (p.S137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864828" "0" "30" "16" "51175754" "51175754" "subst" "0.00228628" "01804" "SALL1_000098" "g.51175754C>G" "" "" "" "SALL1(NM_001127892.1):c.88G>C (p.(Val30Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893039" "0" "30" "16" "51171034" "51171034" "subst" "8.93612E-5" "02326" "SALL1_000099" "g.51171034C>T" "" "" "" "SALL1(NM_002968.2):c.3964G>A (p.V1322I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893040" "0" "50" "16" "51173949" "51173949" "subst" "0" "02325" "SALL1_000100" "g.51173949G>T" "" "" "" "SALL1(NM_002968.3):c.2184C>A (p.H728Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893041" "0" "50" "16" "51175680" "51175685" "del" "0" "01804" "SALL1_000101" "g.51175680_51175685del" "" "" "" "SALL1(NM_001127892.1):c.181_186del (p.(Ser61_Ser62del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893042" "0" "30" "16" "51175680" "51175685" "dup" "0" "01804" "SALL1_000079" "g.51175680_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.181_186dupAGCAGC (p.S61_S62dup), SALL1(NM_001127892.1):c.183_184insAGCAGC (p.(Ser61_Ser62dup)), SALL1(NM_002968.2):c.466_47..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893043" "0" "90" "16" "51175769" "51175769" "subst" "0" "02327" "SALL1_000102" "g.51175769C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914639" "0" "30" "16" "51175655" "51175655" "subst" "0" "02326" "SALL1_000037" "g.51175655C>T" "" "" "" "SALL1(NM_001127892.1):c.187G>A (p.(Gly63Ser)), SALL1(NM_002968.2):c.478G>A (p.G160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926300" "0" "50" "16" "51174253" "51174254" "ins" "0" "02325" "SALL1_000103" "g.51174253_51174254insGAC" "" "" "" "SALL1(NM_002968.3):c.1881_1882insCGT (p.S627_G628insR)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930614" "0" "30" "16" "51172713" "51172713" "subst" "2.84278E-5" "02326" "SALL1_000104" "g.51172713G>T" "" "" "" "SALL1(NM_002968.2):c.3420C>A (p.G1140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930615" "0" "30" "16" "51175346" "51175346" "subst" "9.34018E-5" "02325" "SALL1_000034" "g.51175346C>A" "" "" "" "SALL1(NM_001127892.1):c.496G>T (p.(Asp166Tyr)), SALL1(NM_002968.2):c.787G>T (p.D263Y), SALL1(NM_002968.3):c.787G>T (p.D263Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930616" "0" "90" "16" "51175421" "51175421" "subst" "0" "02327" "SALL1_000105" "g.51175421G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000944303" "11" "90" "16" "51174704" "51174704" "dup" "0" "00006" "SALL1_000106" "g.51174704dup" "" "{PMID:Yang 2021:33478437}" "" "1428_1429insT" "" "Germline" "yes" "" "0" "" "" "g.51140793dup" "" "pathogenic (dominant)" "" "0000944304" "0" "90" "16" "51174704" "51174704" "dup" "0" "00006" "SALL1_000106" "g.51174704dup" "" "{PMID:Yang 2021:33478437}" "" "1428_1429insT" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.51140793dup" "" "pathogenic (dominant)" "" "0000950676" "0" "30" "16" "51171204" "51171204" "subst" "0.00144963" "02326" "SALL1_000007" "g.51171204C>T" "" "" "" "SALL1(NM_001127892.1):c.3503G>A (p.G1168E, p.(Gly1168Glu)), SALL1(NM_002968.2):c.3794G>A (p.G1265E), SALL1(NM_002968.3):c.3794G>A (p.G1265E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950677" "0" "50" "16" "51171313" "51171313" "subst" "2.84264E-5" "01804" "SALL1_000107" "g.51171313C>T" "" "" "" "SALL1(NM_001127892.1):c.3394G>A (p.(Asp1132Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968390" "0" "30" "16" "51173673" "51173673" "subst" "4.46679E-5" "02326" "SALL1_000108" "g.51173673G>A" "" "" "" "SALL1(NM_002968.2):c.2460C>T (p.D820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981931" "0" "30" "16" "51173488" "51173488" "subst" "0" "01804" "SALL1_000109" "g.51173488T>A" "" "" "" "SALL1(NM_002968.3):c.2645A>T (p.(Gln882Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981932" "0" "30" "16" "51173955" "51173955" "subst" "0.0141065" "01804" "SALL1_000020" "g.51173955C>T" "" "" "" "SALL1(NM_002968.2):c.2178G>A (p.R726=), SALL1(NM_002968.3):c.2178G>A (p.(Arg726=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981933" "0" "50" "16" "51175960" "51175962" "del" "0" "01804" "SALL1_000110" "g.51175960_51175962del" "" "" "" "SALL1(NM_002968.3):c.174_176del (p.(Leu60del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981934" "0" "30" "16" "51185123" "51185123" "subst" "0" "02326" "SALL1_000111" "g.51185123T>C" "" "" "" "SALL1(NM_002968.2):c.30A>G (p.Q10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002397" "0" "30" "16" "51172901" "51172901" "subst" "2.03052E-5" "01804" "SALL1_000112" "g.51172901C>T" "" "" "" "SALL1(NM_002968.2):c.3232G>A (p.(Ala1078Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002398" "0" "30" "16" "51173146" "51173146" "subst" "8.12288E-6" "01804" "SALL1_000113" "g.51173146C>T" "" "" "" "SALL1(NM_002968.2):c.2987G>A (p.(Gly996Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002399" "0" "50" "16" "51173281" "51173281" "subst" "8.13948E-6" "01804" "SALL1_000114" "g.51173281G>A" "" "" "" "SALL1(NM_002968.2):c.2852C>T (p.(Ala951Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002400" "0" "50" "16" "51173572" "51173572" "subst" "1.62467E-5" "01804" "SALL1_000115" "g.51173572G>A" "" "" "" "SALL1(NM_002968.2):c.2561C>T (p.(Ser854Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002401" "0" "50" "16" "51173863" "51173863" "subst" "8.12123E-6" "01804" "SALL1_000116" "g.51173863C>T" "" "" "" "SALL1(NM_002968.2):c.2270G>A (p.(Arg757His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002402" "0" "50" "16" "51174104" "51174104" "subst" "0" "02325" "SALL1_000117" "g.51174104C>T" "" "" "" "SALL1(NM_002968.3):c.2029G>A (p.G677R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002403" "0" "30" "16" "51174125" "51174125" "subst" "0.000479542" "01804" "SALL1_000118" "g.51174125A>G" "" "" "" "SALL1(NM_002968.2):c.2008T>C (p.(Phe670Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002404" "0" "30" "16" "51174167" "51174167" "subst" "0" "01804" "SALL1_000059" "g.51174167T>C" "" "" "" "SALL1(NM_001127892.1):c.1675A>G (p.T559A), SALL1(NM_002968.2):c.1966A>G (p.(Thr656Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002405" "0" "50" "16" "51174620" "51174620" "subst" "4.06062E-6" "01804" "SALL1_000119" "g.51174620G>A" "" "" "" "SALL1(NM_002968.2):c.1513C>T (p.(His505Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002406" "0" "30" "16" "51174820" "51174820" "subst" "0" "01804" "SALL1_000120" "g.51174820G>C" "" "" "" "SALL1(NM_002968.2):c.1313C>G (p.(Ala438Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002407" "0" "50" "16" "51174880" "51174880" "subst" "8.12123E-6" "02325" "SALL1_000121" "g.51174880G>C" "" "" "" "SALL1(NM_002968.3):c.1253C>G (p.S418C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002408" "0" "30" "16" "51174941" "51174941" "subst" "2.43633E-5" "01804" "SALL1_000122" "g.51174941C>T" "" "" "" "SALL1(NM_002968.2):c.1192G>A (p.(Ala398Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002409" "0" "50" "16" "51175481" "51175481" "subst" "4.06111E-6" "01804" "SALL1_000123" "g.51175481C>T" "" "" "" "SALL1(NM_002968.2):c.652G>A (p.(Gly218Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002410" "0" "30" "16" "51175658" "51175658" "subst" "0" "01804" "SALL1_000043" "g.51175658T>C" "" "" "" "SALL1(NM_002968.2):c.475A>G (p.S159G, p.(Ser159Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002411" "0" "30" "16" "51175661" "51175661" "subst" "0" "01804" "SALL1_000124" "g.51175661T>G" "" "" "" "SALL1(NM_002968.2):c.472A>C (p.(Ser158Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002412" "0" "50" "16" "51176004" "51176017" "del" "0" "01804" "SALL1_000125" "g.51176004_51176017del" "" "" "" "SALL1(NM_002968.2):c.117_130delCAAGGATGCCCACG (p.(Lys40fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026716" "0" "30" "16" "51173329" "51173329" "subst" "3.65583E-5" "02325" "SALL1_000095" "g.51173329G>A" "" "" "" "SALL1(NM_002968.3):c.2804C>T (p.T935M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026717" "0" "90" "16" "51174953" "51174953" "subst" "0" "02325" "SALL1_000126" "g.51174953G>A" "" "" "" "SALL1(NM_002968.3):c.1180C>T (p.Q394*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026718" "0" "30" "16" "51175898" "51175898" "subst" "0.00508608" "01943" "SALL1_000048" "g.51175898C>G" "" "" "" "SALL1(NM_001127892.1):c.-57G>C (p.(=)), SALL1(NM_002968.2):c.235G>C (p.A79P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041167" "0" "30" "16" "51171083" "51171083" "subst" "0.00130758" "01804" "SALL1_000003" "g.51171083G>A" "" "" "" "SALL1(NM_001127892.1):c.3624C>T (p.N1208=), SALL1(NM_002968.2):c.3915C>T (p.N1305=), SALL1(NM_002968.3):c.3915C>T (p.(Asn1305=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041168" "0" "30" "16" "51171110" "51171110" "subst" "4.06088E-6" "01804" "SALL1_000127" "g.51171110G>A" "" "" "" "SALL1(NM_002968.3):c.3888C>T (p.(Gly1296=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041169" "0" "10" "16" "51173589" "51173589" "subst" "0.0092264" "01804" "SALL1_000017" "g.51173589T>C" "" "" "" "SALL1(NM_002968.2):c.2544A>G (p.Q848=), SALL1(NM_002968.3):c.2544A>G (p.(Gln848=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001041170" "0" "30" "16" "51173823" "51173823" "subst" "0.00940017" "01804" "SALL1_000128" "g.51173823G>A" "" "" "" "SALL1(NM_002968.3):c.2310C>T (p.(Ile770=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041171" "0" "30" "16" "51175157" "51175157" "subst" "7.30953E-5" "01804" "SALL1_000129" "g.51175157A>C" "" "" "" "SALL1(NM_002968.3):c.976T>G (p.(Ser326Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041172" "0" "30" "16" "51175584" "51175584" "subst" "6.49804E-5" "01804" "SALL1_000097" "g.51175584T>C" "" "" "" "SALL1(NM_001127892.1):c.258A>G (p.T86=), SALL1(NM_002968.3):c.549A>G (p.(Thr183=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041173" "0" "50" "16" "51175674" "51175685" "dup" "0" "01804" "SALL1_000130" "g.51175674_51175685dup" "" "" "" "SALL1(NM_002968.3):c.466_477dup (p.(Ser156_Ser159dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041174" "0" "30" "16" "51175743" "51175743" "subst" "0.00912081" "01804" "SALL1_000087" "g.51175743C>T" "" "" "" "SALL1(NM_002968.2):c.390G>A (p.P130=), SALL1(NM_002968.3):c.390G>A (p.(Pro130=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055574" "0" "50" "16" "51173224" "51173224" "subst" "0" "01804" "SALL1_000131" "g.51173224A>G" "" "" "" "SALL1(NM_002968.3):c.2909T>C (p.(Leu970Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055575" "0" "30" "16" "51173251" "51173251" "subst" "4.47726E-5" "01804" "SALL1_000132" "g.51173251G>A" "" "" "" "SALL1(NM_002968.3):c.2882C>T (p.(Ser961Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055576" "0" "30" "16" "51173270" "51173270" "subst" "2.84893E-5" "01804" "SALL1_000133" "g.51173270C>T" "" "" "" "SALL1(NM_002968.3):c.2863G>A (p.(Glu955Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055577" "0" "50" "16" "51173929" "51173929" "subst" "0" "01804" "SALL1_000134" "g.51173929T>C" "" "" "" "SALL1(NM_002968.3):c.2204A>G (p.(Lys735Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055578" "0" "50" "16" "51175658" "51175659" "del" "0" "01804" "SALL1_000135" "g.51175658_51175659del" "" "" "" "SALL1(NM_002968.3):c.474_475del (p.(Ser158ArgfsTer111))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055579" "0" "50" "16" "51175661" "51175661" "del" "0" "01804" "SALL1_000136" "g.51175661del" "" "" "" "SALL1(NM_002968.3):c.472del (p.(Ser158AlafsTer25))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055580" "0" "50" "16" "51175668" "51175685" "dup" "0" "01804" "SALL1_000137" "g.51175668_51175685dup" "" "" "" "SALL1(NM_002968.3):c.460_477dup (p.(Ser154_Ser159dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055581" "0" "50" "16" "51175832" "51175832" "subst" "0" "01804" "SALL1_000138" "g.51175832T>C" "" "" "" "SALL1(NM_002968.3):c.301A>G (p.(Thr101Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059333" "0" "90" "16" "51175847" "51175847" "subst" "0" "03544" "SALL1_000139" "g.51175847C>A" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.51141936C>A" "{CV:4795788}" "pathogenic" "ACMG" "0001066494" "0" "50" "16" "51171279" "51171279" "subst" "1.62431E-5" "02325" "SALL1_000140" "g.51171279G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066495" "0" "30" "16" "51173582" "51173582" "subst" "1.2183E-5" "02325" "SALL1_000057" "g.51173582A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001068426" "0" "70" "16" "51175309" "51175309" "subst" "0" "03544" "SALL1_000142" "g.51175309A>C" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.51141398A>C" "{CV:3765524}" "pathogenic" "ACMG" "0001068427" "0" "70" "16" "51174728" "51174738" "del" "0" "03544" "SALL1_000141" "g.51174728_51174738del" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.51140817_51140827del" "" "pathogenic (dominant)" "ACMG" "0001068456" "0" "90" "16" "51175309" "51175309" "subst" "0" "00006" "SALL1_000142" "g.51175309A>C" "" "{PMID:Liberalesso 2017:29110636}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141398A>C" "" "pathogenic (dominant)" "" "0001068458" "21" "90" "16" "51174865" "51174865" "del" "0" "00006" "SALL1_000143" "g.51174865del" "" "{PMID:Kohlhase 1998:9425907}" "CfrI+" "1377delC" "" "Germline" "yes" "" "0" "" "" "g.51140954del" "" "pathogenic (dominant)" "" "0001068459" "0" "90" "16" "51175018" "51175018" "subst" "0" "00006" "SALL1_000144" "g.51175018G>T" "" "{PMID:Kohlhase 1998:9425907}" "" "1222C>A" "" "De novo" "" "" "0" "" "" "g.51141107G>T" "" "pathogenic (dominant)" "" "0001068460" "0" "90" "16" "51175018" "51175018" "subst" "0" "00006" "SALL1_000144" "g.51175018G>T" "" "{PMID:Kohlhase 1999:9973281}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141107G>T" "" "pathogenic (dominant)" "" "0001068461" "1" "90" "16" "51174865" "51174865" "del" "0" "00006" "SALL1_000143" "g.51174865del" "" "{PMID:Kohlhase 1999:9973281}" "" "1268delC" "" "Germline" "" "" "0" "" "" "g.51140954del" "" "pathogenic (dominant)" "" "0001068462" "1" "90" "16" "51174865" "51174865" "del" "0" "00006" "SALL1_000143" "g.51174865del" "" "{PMID:Kohlhase 1999:9973281}" "" "1268delC" "" "Germline" "" "" "0" "" "" "g.51140954del" "" "pathogenic (dominant)" "" "0001068463" "1" "90" "16" "51174865" "51174865" "del" "0" "00006" "SALL1_000143" "g.51174865del" "" "{PMID:Kohlhase 1999:9973281}" "" "1268delC" "" "Germline" "" "" "0" "" "" "g.51140954del" "" "pathogenic (dominant)" "" "0001068464" "0" "90" "16" "51175307" "51175307" "subst" "0" "00006" "SALL1_000071" "g.51175307G>A" "" "{PMID:Kohlhase 1999:9973281}" "" "" "" "De novo" "" "" "0" "" "" "g.51141396G>A" "" "pathogenic (dominant)" "" "0001068465" "0" "90" "16" "51175307" "51175307" "subst" "0" "00006" "SALL1_000071" "g.51175307G>A" "" "{PMID:Kohlhase 1999:9973281}" "" "" "" "De novo" "" "" "0" "" "" "g.51141396G>A" "" "pathogenic (dominant)" "" "0001068466" "0" "90" "16" "51175307" "51175307" "subst" "0" "00006" "SALL1_000071" "g.51175307G>A" "" "{PMID:Kohlhase 1999:9973281}" "" "" "" "De novo" "" "" "0" "" "" "g.51141396G>A" "" "pathogenic (dominant)" "" "0001068467" "0" "90" "16" "51175018" "51175018" "subst" "0" "00006" "SALL1_000185" "g.51175018G>C" "" "{PMID:Kohlhase 1999:9973281}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141107G>C" "" "pathogenic (dominant)" "" "0001068468" "21" "90" "16" "51174929" "51174935" "del" "0" "00006" "SALL1_000178" "g.51174929_51174935del" "" "{PMID:Kohlhase 1999:9973281}" "" "" "" "Germline" "" "" "0" "" "" "g.51141018_51141024del" "" "pathogenic (dominant)" "" "0001068469" "0" "90" "16" "51174929" "51174935" "del" "0" "00006" "SALL1_000178" "g.51174929_51174935del" "" "{PMID:Kohlhase 1999:9973281}" "" "" "" "Somatic" "" "" "0" "" "" "g.51141018_51141024del" "" "pathogenic (dominant)" "" "0001068470" "0" "90" "16" "51174835" "51174844" "del" "0" "00006" "SALL1_000026" "g.51174835_51174844del" "" "{PMID:Kohlhase 1999:9973281}" "" "1291_1300del" "" "De novo" "" "" "0" "" "" "g.51140924_51140933del" "" "pathogenic (dominant)" "" "0001068471" "11" "90" "16" "51174835" "51174844" "del" "0" "00006" "SALL1_000026" "g.51174835_51174844del" "" "{PMID:Kohlhase 1999:9973281}" "" "1291_1300del" "" "Germline" "" "" "0" "" "" "g.51140924_51140933del" "" "pathogenic (dominant)" "" "0001068472" "0" "90" "16" "51175714" "51175714" "del" "0" "00006" "SALL1_000197" "g.51175714del" "" "{PMID:Kohlhase 1999:9973281}" "" "419delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141803del" "" "pathogenic (dominant)" "" "0001068473" "21" "90" "16" "51174987" "51174987" "del" "0" "00006" "SALL1_000181" "g.51174987del" "" "{PMID:Kohlhase 1999:9973281}" "" "1146delT" "" "Germline" "" "" "0" "" "" "g.51141076del" "" "pathogenic (dominant)" "" "0001068474" "21" "90" "16" "51174987" "51174987" "del" "0" "00006" "SALL1_000181" "g.51174987del" "" "{PMID:Kohlhase 1999:9973281}" "" "1146delT" "" "Germline" "" "" "0" "" "" "g.51141076del" "" "pathogenic (dominant)" "" "0001068475" "21" "50" "16" "51174987" "51174987" "del" "0" "00006" "SALL1_000181" "g.51174987del" "" "{PMID:Kohlhase 1999:9973281}" "" "1146delT" "" "Germline" "" "" "0" "" "" "g.51141076del" "" "pathogenic (dominant)" "" "0001068476" "0" "50" "16" "51174856" "51174857" "del" "0" "00006" "SALL1_000174" "g.51174856_51174857del" "" "{PMID:Kohlhase 1999:9973281}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51140945_51140946del" "" "pathogenic (dominant)" "" "0001068477" "3" "10" "16" "51175658" "51175658" "subst" "0" "00006" "SALL1_000043" "g.51175658T>C" "" "{PMID:Kohlhase 1999:9973281}" "" "" "" "Germline" "" "" "0" "" "" "g.51141747T>C" "" "benign" "" "0001068478" "3" "10" "16" "51175683" "51175685" "dup" "0" "00006" "SALL1_000080" "g.51175683_51175685dup" "" "{PMID:Kohlhase 1999:9973281}" "" "447_448insAGC" "" "Germline" "" "" "0" "" "" "g.51141772_51141774dup" "" "benign" "" "0001068479" "1" "10" "16" "51175683" "51175685" "del" "0" "00006" "SALL1_000040" "g.51175683_51175685del" "" "{PMID:Kohlhase 1999:9973281}" "" "448_450delAGC" "" "Germline" "" "" "0" "" "" "g.51141772_51141774del" "" "benign" "" "0001068480" "21" "90" "16" "51174788" "51174789" "del" "0" "00006" "SALL1_000171" "g.51174788_51174789del" "" "{PMID:Marlin 1999:10533063}" "" "1347-1348delCA" "" "Germline" "" "" "0" "" "" "g.51140877_51140878del" "" "pathogenic (dominant)" "" "0001068481" "11" "90" "16" "51174721" "51174721" "dup" "0" "00006" "SALL1_000168" "g.51174721dup" "" "{PMID:Marlin 1999:10533063}" "" "1411-1412insA" "" "Germline" "" "" "0" "" "" "g.51140810dup" "" "pathogenic (dominant)" "" "0001068482" "21" "90" "16" "51174653" "51174654" "ins" "0" "00006" "SALL1_000166" "g.51174653_51174654insCT" "" "{PMID:Marlin 1999:10533063}" "" "1479-1480insAG" "" "Germline" "" "" "0" "" "" "g.51140742_51140743insCT" "" "pathogenic (dominant)" "" "0001068483" "21" "90" "16" "51174568" "51174568" "del" "0" "00006" "SALL1_000162" "g.51174568del" "" "{PMID:Marlin 1999:10533063}" "" "1565delC" "" "Germline" "" "" "0" "" "" "g.51140657del" "" "pathogenic (dominant)" "" "0001068484" "11" "90" "16" "51173489" "51174646" "delins" "0" "00006" "SALL1_000159" "g.51173489_51174646delinsTGCCTG" "" "{PMID:Marlin 1999:10533063}" "" "1487del562 2056del588" "" "Germline" "" "" "0" "" "" "g.51139578_51140735delinsTGCCTG" "" "pathogenic (dominant)" "" "0001068485" "0" "90" "16" "51175307" "51175307" "subst" "0" "00006" "SALL1_000071" "g.51175307G>A" "" "{PMID:Marlin 1999:10533063}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141396G>A" "" "pathogenic (dominant)" "" "0001068486" "0" "90" "16" "51175307" "51175307" "subst" "0" "00006" "SALL1_000071" "g.51175307G>A" "" "{PMID:Marlin 1999:10533063}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141396G>A" "" "pathogenic (dominant)" "" "0001068487" "0" "90" "16" "51175307" "51175307" "subst" "0" "00006" "SALL1_000071" "g.51175307G>A" "" "{PMID:Marlin 1999:10533063}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141396G>A" "" "pathogenic (dominant)" "" "0001068488" "0" "90" "16" "51174158" "51174167" "del" "0" "00006" "SALL1_000161" "g.51174158_51174167del" "" "{PMID:Marlin 1999:10533063}" "" "1966del10" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51140247_51140256del" "" "pathogenic (dominant)" "" "0001068489" "0" "90" "16" "0" "0" "" "" "00006" "SALL1_000000" "g.(51381183_51385183)_qterdelins[NC_000005.9:(4500001_9800000)inv]" "" "{PMID:Marlin 1999:10533063}" "" "" "translocation 180kb upstream of SALL1, predicted to give a position effect on expression" "De novo" "" "" "0" "" "t(5;16)(p15.3;q12.1)" "g.(51347272_51351272)_qterdelins[NC_000005.10(4400001_9900000)inv]" "" "pathogenic (dominant)" "" "0001068490" "0" "10" "16" "51175658" "51175658" "subst" "0" "00006" "SALL1_000043" "g.51175658T>C" "" "{PMID:Marlin 1999:10533063}" "" "" "" "Germline" "" "" "0" "" "" "g.51141747T>C" "" "benign" "" "0001068491" "0" "10" "16" "51175683" "51175685" "dup" "0" "00006" "SALL1_000080" "g.51175683_51175685dup" "" "{PMID:Marlin 1999:10533063}" "" "477-478insAGC" "" "Germline" "" "" "0" "" "" "g.51141772_51141774dup" "" "benign" "" "0001068492" "0" "10" "16" "51175643" "51175645" "del" "0" "00006" "SALL1_000196" "g.51175643_51175645del" "" "{PMID:Marlin 1999:10533063}" "" "490-492delAGC" "" "Germline" "" "" "0" "" "" "g.51141732_51141734del" "" "benign" "" "0001068493" "0" "10" "16" "51173955" "51173955" "subst" "0.0141065" "00006" "SALL1_000020" "g.51173955C>T" "" "{PMID:Marlin 1999:10533063}" "" "" "" "Germline" "" "" "0" "" "" "g.51140044C>T" "" "benign" "" "0001068494" "0" "10" "16" "51173559" "51173559" "subst" "0.626762" "00006" "SALL1_000016" "g.51173559G>A" "" "{PMID:Marlin 1999:10533063}" "" "2575T>C" "" "Germline" "" "" "0" "" "" "g.51139648G>A" "" "benign" "" "0001068495" "0" "10" "16" "51171204" "51171204" "subst" "0.00144963" "00006" "SALL1_000007" "g.51171204C>T" "" "{PMID:Marlin 1999:10533063}" "" "" "" "Germline" "" "" "0" "" "" "g.51137293C>T" "" "benign" "" "0001068499" "11" "70" "16" "51174314" "51174314" "del" "0" "00006" "SALL1_000145" "g.51174314del" "" "{PMID:Engels 2000:10928856}" "" "1819delG" "" "Germline" "yes" "" "0" "" "" "g.51140403del" "" "pathogenic (dominant)" "" "0001068500" "21" "90" "16" "51175340" "51175341" "del" "0" "00006" "SALL1_000146" "g.51175340_51175341del" "" "{PMID:Surka 2001:11484202}" "" "792–793delGC" "" "Germline" "yes" "" "0" "" "" "g.51141429_51141430del" "" "pathogenic (dominant)" "" "0001068501" "11" "90" "16" "51175166" "51175166" "subst" "0" "00006" "SALL1_000147" "g.51175166G>A" "" "{PMID:Albrecht 2004:14755477}" "" "" "" "Germline" "yes" "" "0" "" "" "g.51141255G>A" "" "pathogenic (dominant)" "" "0001068502" "21" "90" "16" "51174877" "51174877" "subst" "0" "00006" "SALL1_000148" "g.51174877A>T" "" "PMID:Kosaki 2007:17431915}" "" "" "" "Germline" "yes" "" "0" "" "" "g.51140966A>T" "" "pathogenic (dominant)" "" "0001068503" "11" "10" "16" "51175324" "51175324" "subst" "0.00152292" "00006" "SALL1_000033" "g.51175324G>A" "" "PMID:Kosaki 2007:17431915}" "" "" "" "Germline" "" "" "0" "" "" "g.51141413G>A" "" "benign" "" "0001068504" "0" "90" "16" "51175139" "51175139" "del" "0" "00006" "SALL1_000149" "g.51175139del" "" "{PMID:Furniss 2007:18000979}" "" "995delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141228del" "" "pathogenic (dominant)" "" "0001068505" "0" "90" "16" "51172718" "51172719" "del" "0" "00006" "SALL1_000150" "g.51172718_51172719del" "" "{PMID:Furniss 2007:18000979}" "" "3414_3415delAT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51138807_51138808del" "" "pathogenic (dominant)" "" "0001068509" "0" "90" "16" "51175823" "51175823" "del" "0" "00006" "SALL1_000198" "g.51175823del" "" "{PMID:Botzenhart 2007:17221874}" "" "313delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141912del" "" "pathogenic (dominant)" "" "0001068510" "0" "90" "16" "51175319" "51175319" "subst" "0" "00006" "SALL1_000193" "g.51175319G>A" "" "{PMID:Botzenhart 2007:17221874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141408G>A" "" "pathogenic (dominant)" "" "0001068511" "0" "90" "16" "51175232" "51175232" "subst" "0" "00006" "SALL1_000192" "g.51175232G>A" "" "{PMID:Botzenhart 2007:17221874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141321G>A" "" "pathogenic (dominant)" "" "0001068512" "0" "90" "16" "51175139" "51175139" "del" "0" "00006" "SALL1_000149" "g.51175139del" "" "{PMID:Botzenhart 2007:17221874}" "" "995delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141228del" "" "pathogenic (dominant)" "" "0001068513" "0" "90" "16" "51175088" "51175088" "dup" "0" "00006" "SALL1_000189" "g.51175088dup" "" "{PMID:Botzenhart 2007:17221874}" "" "1045dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141177dup" "" "pathogenic (dominant)" "" "0001068514" "21" "90" "16" "51175087" "51175087" "dup" "0" "00006" "SALL1_000188" "g.51175087dup" "" "{PMID:Botzenhart 2007:17221874}" "" "1047dupC" "" "Germline" "" "" "0" "" "" "g.51141176dup" "" "pathogenic (dominant)" "" "0001068515" "0" "90" "16" "51175087" "51175087" "dup" "0" "00006" "SALL1_000188" "g.51175087dup" "" "{PMID:Botzenhart 2007:17221874}" "" "1047dupC" "" "Germline" "" "" "0" "" "" "g.51141176dup" "" "pathogenic (dominant)" "" "0001068516" "11" "90" "16" "51175072" "51175072" "dup" "0" "00006" "SALL1_000187" "g.51175072dup" "" "{PMID:Botzenhart 2007:17221874}" "" "1061dupA" "" "Germline" "" "" "0" "" "" "g.51141161dup" "" "pathogenic (dominant)" "" "0001068517" "11" "90" "16" "51175072" "51175072" "dup" "0" "00006" "SALL1_000187" "g.51175072dup" "" "{PMID:Botzenhart 2007:17221874}" "" "1061dupA" "" "Germline" "" "" "0" "" "" "g.51141161dup" "" "pathogenic (dominant)" "" "0001068518" "11" "90" "16" "51175072" "51175072" "dup" "0" "00006" "SALL1_000187" "g.51175072dup" "" "{PMID:Botzenhart 2007:17221874}" "" "1061dupA" "" "Germline" "" "" "0" "" "" "g.51141161dup" "" "pathogenic (dominant)" "" "0001068519" "11" "90" "16" "51175072" "51175072" "dup" "0" "00006" "SALL1_000187" "g.51175072dup" "" "{PMID:Botzenhart 2007:17221874}" "" "1061dupA" "" "Germline" "" "" "0" "" "" "g.51141161dup" "" "pathogenic (dominant)" "" "0001068520" "0" "90" "16" "51175072" "51175072" "dup" "0" "00006" "SALL1_000187" "g.51175072dup" "" "{PMID:Botzenhart 2007:17221874}" "" "1061dupA" "" "Germline" "" "" "0" "" "" "g.51141161dup" "" "pathogenic (dominant)" "" "0001068521" "0" "90" "16" "51175048" "51175049" "del" "0" "00006" "SALL1_000186" "g.51175048_51175049del" "" "{PMID:Botzenhart 2007:17221874}" "" "1084_1085delGC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141137_51141138del" "" "pathogenic (dominant)" "" "0001068522" "0" "90" "16" "51174937" "51175015" "del" "0" "00006" "SALL1_000179" "g.51174937_51175015del" "" "{PMID:Botzenhart 2007:17221874}" "" "1119_1197del79" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141026_51141104del" "" "pathogenic (dominant)" "" "0001068523" "0" "90" "16" "51175002" "51175002" "del" "0" "00006" "SALL1_000183" "g.51175002del" "" "{PMID:Botzenhart 2007:17221874}" "" "1134delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141091del" "" "pathogenic (dominant)" "" "0001068524" "0" "90" "16" "51174959" "51174960" "del" "0" "00006" "SALL1_000180" "g.51174959_51174960del" "" "{PMID:Botzenhart 2007:17221874}" "" "1174_1175delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141048_51141049del" "" "pathogenic (dominant)" "" "0001068525" "0" "90" "16" "51174905" "51174905" "subst" "0" "00006" "SALL1_000177" "g.51174905C>A" "" "{PMID:Botzenhart 2007:17221874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51140994C>A" "" "pathogenic (dominant)" "" "0001068526" "21" "90" "16" "51174860" "51174860" "del" "0" "00006" "SALL1_000175" "g.51174860del" "" "{PMID:Botzenhart 2007:17221874}" "" "1273delC" "" "Germline" "" "" "0" "" "" "g.51140949del" "" "pathogenic (dominant)" "" "0001068527" "0" "90" "16" "51174860" "51174860" "del" "0" "00006" "SALL1_000175" "g.51174860del" "" "{PMID:Botzenhart 2007:17221874}" "" "1273delC" "" "Germline" "" "" "0" "" "" "g.51140949del" "" "pathogenic (dominant)" "" "0001068528" "0" "90" "16" "51174708" "51174718" "del" "0" "00006" "SALL1_000167" "g.51174708_51174718del" "" "{PMID:Botzenhart 2007:17221874}" "" "1415_1425del11" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51140797_51140807del" "" "pathogenic (dominant)" "" "0001068529" "0" "90" "16" "51174632" "51174633" "del" "0" "00006" "SALL1_000165" "g.51174632_51174633del" "" "{PMID:Botzenhart 2007:17221874}" "" "1503_1504delGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51140721_51140722del" "" "pathogenic (dominant)" "" "0001068530" "11" "90" "16" "51174618" "51174619" "dup" "0" "00006" "SALL1_000164" "g.51174618_51174619dup" "" "{PMID:Botzenhart 2007:17221874}" "" "1516_1517dupAT" "" "Germline" "" "" "0" "" "" "g.51140707_51140708dup" "" "pathogenic (dominant)" "" "0001068531" "11" "90" "16" "51174618" "51174619" "dup" "0" "00006" "SALL1_000164" "g.51174618_51174619dup" "" "{PMID:Botzenhart 2007:17221874}" "" "1516_1517dupAT" "" "Germline" "" "" "0" "" "" "g.51140707_51140708dup" "" "pathogenic (dominant)" "" "0001068532" "0" "90" "16" "51173877" "51173877" "del" "0" "00006" "SALL1_000160" "g.51173877del" "" "{PMID:Botzenhart 2007:17221874}" "" "2256delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51139966del" "" "pathogenic (dominant)" "" "0001068533" "11" "90" "16" "51173101" "51173114" "dup" "0" "00006" "SALL1_000158" "g.51173101_51173114dup" "" "{PMID:Botzenhart 2007:17221874}" "" "3019_3032dup14" "" "Germline" "" "" "0" "" "" "g.51139190_51139203dup" "" "pathogenic (dominant)" "" "0001068534" "0" "90" "16" "51173101" "51173114" "dup" "0" "00006" "SALL1_000158" "g.51173101_51173114dup" "" "{PMID:Botzenhart 2007:17221874}" "" "3019_3032dup14" "" "Germline" "" "" "0" "" "" "g.51139190_51139203dup" "" "pathogenic (dominant)" "" "0001068535" "21" "90" "16" "51172883" "51172889" "del" "0" "00006" "SALL1_000157" "g.51172883_51172889del" "" "{PMID:Botzenhart 2007:17221874}" "" "3249_3255del7" "" "Germline" "" "" "0" "" "" "g.51138972_51138978del" "" "pathogenic (dominant)" "" "0001068536" "21" "90" "16" "51172883" "51172889" "del" "0" "00006" "SALL1_000157" "g.51172883_51172889del" "" "{PMID:Botzenhart 2007:17221874}" "" "3249_3255del7" "" "Germline" "" "" "0" "" "" "g.51138972_51138978del" "" "pathogenic (dominant)" "" "0001068537" "0" "90" "16" "51172883" "51172889" "del" "0" "00006" "SALL1_000157" "g.51172883_51172889del" "" "{PMID:Botzenhart 2007:17221874}" "" "3249_3255del7" "" "Germline" "" "" "0" "" "" "g.51138972_51138978del" "" "pathogenic (dominant)" "" "0001068538" "21" "90" "16" "51172718" "51172719" "del" "0" "00006" "SALL1_000150" "g.51172718_51172719del" "" "{PMID:Botzenhart 2007:17221874}" "" "3414_3415delAT" "" "Germline" "" "" "0" "" "" "g.51138807_51138808del" "" "pathogenic (dominant)" "" "0001068539" "21" "90" "16" "51172718" "51172719" "del" "0" "00006" "SALL1_000150" "g.51172718_51172719del" "" "{PMID:Botzenhart 2007:17221874}" "" "3414_3415delAT" "" "Germline" "" "" "0" "" "" "g.51138807_51138808del" "" "pathogenic (dominant)" "" "0001068540" "21" "90" "16" "51172718" "51172719" "del" "0" "00006" "SALL1_000150" "g.51172718_51172719del" "" "{PMID:Botzenhart 2007:17221874}" "" "3414_3415delAT" "" "Germline" "" "" "0" "" "" "g.51138807_51138808del" "" "pathogenic (dominant)" "" "0001068542" "0" "90" "16" "51175370" "51175370" "del" "0" "00006" "SALL1_000195" "g.51175370del" "" "{PMID:Botzenhart 2005:16088922}" "" "764delT" "" "Germline" "" "" "0" "" "" "g.51141459del" "" "pathogenic (dominant)" "" "0001068543" "0" "90" "16" "51175370" "51175370" "del" "0" "00006" "SALL1_000195" "g.51175370del" "" "{PMID:Botzenhart 2005:16088922}" "" "764delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141459del" "" "pathogenic (dominant)" "" "0001068544" "0" "90" "16" "51175355" "51175355" "subst" "0" "00006" "SALL1_000194" "g.51175355G>A" "" "{PMID:Botzenhart 2005:16088922}" "" "" "" "Germline" "" "" "0" "" "" "g.51141444G>A" "" "pathogenic (dominant)" "" "0001068545" "0" "90" "16" "51175355" "51175355" "subst" "0" "00006" "SALL1_000194" "g.51175355G>A" "" "{PMID:Botzenhart 2005:16088922}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141444G>A" "" "pathogenic (dominant)" "" "0001068546" "0" "90" "16" "51175193" "51175193" "subst" "0" "00006" "SALL1_000191" "g.51175193T>A" "" "{PMID:Botzenhart 2005:16088922}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141282T>A" "" "pathogenic (dominant)" "" "0001068547" "21" "90" "16" "51175105" "51175106" "del" "0" "00006" "SALL1_000190" "g.51175105_51175106del" "" "{PMID:Botzenhart 2005:16088922}" "" "1028_1029delTA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141194_51141195del" "" "pathogenic (dominant)" "" "0001068548" "0" "90" "16" "51175009" "51175009" "del" "0" "00006" "SALL1_000184" "g.51175009del" "" "{PMID:Botzenhart 2005:16088922}" "" "1124delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141098del" "" "pathogenic (dominant)" "" "0001068549" "11" "90" "16" "51174987" "51174988" "ins" "0" "00006" "SALL1_000182" "g.51174987_51174988insTA" "" "{PMID:Botzenhart 2005:16088922}" "" "1145_1146insTA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141076_51141077insTA" "" "pathogenic (dominant)" "" "0001068550" "11" "90" "16" "51174871" "51174871" "del" "0" "00006" "SALL1_000176" "g.51174871del" "" "{PMID:Botzenhart 2005:16088922}" "" "1263delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51140960del" "" "pathogenic (dominant)" "" "0001068551" "11" "90" "16" "51174812" "51174812" "dup" "0" "00006" "SALL1_000173" "g.51174812dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1321dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51140901dup" "" "pathogenic (dominant)" "" "0001068552" "11" "90" "16" "51174806" "51174806" "del" "0" "00006" "SALL1_000172" "g.51174806del" "" "{PMID:Botzenhart 2005:16088922}" "" "1327delG" "" "Germline" "" "" "0" "" "" "g.51140895del" "" "pathogenic (dominant)" "" "0001068553" "0" "90" "16" "51174806" "51174806" "del" "0" "00006" "SALL1_000172" "g.51174806del" "" "{PMID:Botzenhart 2005:16088922}" "" "1327delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51140895del" "" "pathogenic (dominant)" "" "0001068554" "0" "90" "16" "51174761" "51174761" "del" "0" "00006" "SALL1_000170" "g.51174761del" "" "{PMID:Botzenhart 2005:16088922}" "" "1374delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51140850del" "" "pathogenic (dominant)" "" "0001068555" "0" "90" "16" "51174729" "51174729" "dup" "0" "00006" "SALL1_000169" "g.51174729dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1404dupG" "" "Germline" "" "" "0" "" "" "g.51140818dup" "" "pathogenic (dominant)" "" "0001068556" "0" "90" "16" "51174729" "51174729" "dup" "0" "00006" "SALL1_000169" "g.51174729dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1404dupG" "" "Germline" "" "" "0" "" "" "g.51140818dup" "" "pathogenic (dominant)" "" "0001068557" "0" "90" "16" "51174729" "51174729" "dup" "0" "00006" "SALL1_000169" "g.51174729dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1404dupG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51140818dup" "" "pathogenic (dominant)" "" "0001068558" "0" "90" "16" "51174729" "51174729" "dup" "0" "00006" "SALL1_000169" "g.51174729dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1404dupG" "" "Germline" "" "" "0" "" "" "g.51140818dup" "" "pathogenic (dominant)" "" "0001068559" "21" "90" "16" "51174729" "51174729" "dup" "0" "00006" "SALL1_000169" "g.51174729dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1404dupG" "" "Germline" "" "" "0" "" "" "g.51140818dup" "" "pathogenic (dominant)" "" "0001068560" "0" "90" "16" "51174729" "51174729" "dup" "0" "00006" "SALL1_000169" "g.51174729dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1404dupG" "" "Germline" "" "" "0" "" "" "g.51140818dup" "" "pathogenic (dominant)" "" "0001068561" "0" "90" "16" "51174729" "51174729" "dup" "0" "00006" "SALL1_000169" "g.51174729dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1404dupG" "" "Germline" "" "" "0" "" "" "g.51140818dup" "" "pathogenic (dominant)" "" "0001068562" "0" "90" "16" "51174729" "51174729" "dup" "0" "00006" "SALL1_000169" "g.51174729dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1404dupG" "" "Germline" "" "" "0" "" "" "g.51140818dup" "" "pathogenic (dominant)" "" "0001068563" "11" "90" "16" "51174729" "51174729" "dup" "0" "00006" "SALL1_000169" "g.51174729dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1404dupG" "" "Germline" "" "" "0" "" "" "g.51140818dup" "" "pathogenic (dominant)" "" "0001068564" "11" "90" "16" "51174729" "51174729" "dup" "0" "00006" "SALL1_000169" "g.51174729dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1404dupG" "" "Germline" "" "" "0" "" "" "g.51140818dup" "" "pathogenic (dominant)" "" "0001068565" "0" "90" "16" "51174729" "51174729" "dup" "0" "00006" "SALL1_000169" "g.51174729dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1404dupG" "" "Germline" "" "" "0" "" "" "g.51140818dup" "" "pathogenic (dominant)" "" "0001068566" "11" "90" "16" "51174729" "51174729" "dup" "0" "00006" "SALL1_000169" "g.51174729dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1404dupG" "" "Germline" "" "" "0" "" "" "g.51140818dup" "" "pathogenic (dominant)" "" "0001068567" "0" "90" "16" "51174729" "51174729" "dup" "0" "00006" "SALL1_000169" "g.51174729dup" "" "{PMID:Botzenhart 2005:16088922}" "" "1404dupG" "" "Germline" "" "" "0" "" "" "g.51140818dup" "" "pathogenic (dominant)" "" "0001068568" "21" "90" "16" "51174590" "51174590" "subst" "0" "00006" "SALL1_000163" "g.51174590C>A" "" "{PMID:Botzenhart 2005:16088922}" "" "" "" "Germline" "" "" "0" "" "" "g.51140679C>A" "" "pathogenic (dominant)" "" "0001068569" "21" "90" "16" "51174590" "51174590" "subst" "0" "00006" "SALL1_000163" "g.51174590C>A" "" "{PMID:Botzenhart 2005:16088922}" "" "" "" "Germline" "" "" "0" "" "" "g.51140679C>A" "" "pathogenic (dominant)" "" "0001068570" "0" "90" "16" "51174590" "51174590" "subst" "0" "00006" "SALL1_000163" "g.51174590C>A" "" "{PMID:Botzenhart 2005:16088922}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51140679C>A" "" "pathogenic (dominant)" "" "0001068571" "0" "90" "16" "51175316" "51175316" "del" "0" "00006" "SALL1_000151" "g.51175316del" "" "{PMID:Salerno 2000:10654325}" "" "817delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141405del" "" "pathogenic (dominant)" "" "0001068572" "21" "90" "16" "51171482" "51171482" "subst" "0" "00006" "SALL1_000152" "g.51171482A>T" "" "{PMID:Blanck 2000:10819639}" "" "IVS2-19T>A" "" "Germline" "yes" "" "0" "" "" "g.51137571A>T" "" "pathogenic (dominant)" "" "0001068573" "0" "90" "16" "51175293" "51175293" "del" "0" "00006" "SALL1_000153" "g.51175293del" "" "{PMID:Blanck 2000:10819639}" "" "840delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51141382del" "" "pathogenic (dominant)" "" "0001068575" "20" "90" "16" "51174624" "51174624" "subst" "0" "00006" "SALL1_000154" "g.51174624G>T" "" "{PMID:Blanck 2000:10819639}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51140713G>T" "" "pathogenic (dominant)" "" "0001068577" "11" "90" "16" "51174878" "51174878" "del" "0" "00006" "SALL1_000155" "g.51174878del" "" "2-generation family, 1 affected" "" "1255delT" "somatic mosaicism in father" "Germline" "" "" "0" "" "" "g.51140967del" "" "pathogenic (dominant)" "" "0001068578" "20" "90" "16" "51173354" "51173354" "subst" "0" "00006" "SALL1_000156" "g.51173354G>A" "" "{PMID:Walter 2006:16470706}" "" "" "mixed phenotype trisomy 8/Townes-Brocks syndrome" "Germline" "yes" "" "0" "" "mos 47,XX,+8 [8]/46,XX" "g.51139443G>A" "" "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 SALL1 ## Count = 291 "{{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}}" "0000297893" "00018378" "10" "2574" "0" "2574" "0" "c.2574C>T" "r.(?)" "p.(Leu858=)" "" "0000297894" "00018378" "10" "3823" "0" "3823" "0" "c.3823G>A" "r.(?)" "p.(Val1275Ile)" "" "0000301636" "00018378" "10" "2574" "0" "2574" "0" "c.2574C>T" "r.(?)" "p.(Leu858=)" "" "0000301637" "00018378" "30" "235" "0" "235" "0" "c.235G>C" "r.(?)" "p.(Ala79Pro)" "" "0000301638" "00018378" "10" "3823" "0" "3823" "0" "c.3823G>A" "r.(?)" "p.(Val1275Ile)" "" "0000301639" "00018378" "10" "3872" "0" "3872" "0" "c.3872A>G" "r.(?)" "p.(Asn1291Ser)" "" "0000307652" "00018378" "90" "1128" "0" "1128" "0" "c.1128del" "r.(?)" "p.(Ala377LeufsTer4)" "" "0000307653" "00018378" "90" "1292" "0" "1301" "0" "c.1292_1301del" "r.(?)" "p.(Pro431LeufsTer59)" "" "0000307654" "00018378" "90" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Gln465Ter)" "" "0000307656" "00018378" "90" "1513" "0" "1513" "0" "c.1513C>A" "r.(?)" "p.(His505Asn)" "" "0000307657" "00018378" "90" "1821" "0" "1834" "0" "c.1821_1834del" "r.(?)" "p.(Leu608ArgfsTer28)" "" "0000307658" "00018378" "10" "475" "0" "477" "0" "c.475_477del" "r.(?)" "p.(Ser159del)" "" "0000307660" "00018378" "90" "207" "0" "207" "0" "c.207del" "r.(?)" "p.(Gln69HisfsTer2)" "" "0000307661" "00018378" "10" "2178" "0" "2178" "0" "c.2178G>A" "r.(?)" "p.(Arg726=)" "" "0000307662" "00018378" "50" "2275" "0" "2275" "0" "c.2275A>G" "r.(?)" "p.(Met759Val)" "" "0000307663" "00018378" "10" "2574" "0" "2574" "0" "c.2574C>T" "r.(?)" "p.(Leu858=)" "" "0000307664" "00018378" "10" "2343" "0" "2343" "0" "c.2343G>C" "r.(?)" "p.(Leu781=)" "" "0000307665" "00018378" "10" "2544" "0" "2544" "0" "c.2544A>G" "r.(?)" "p.(Gln848=)" "" "0000307666" "00018378" "90" "2905" "0" "2905" "0" "c.2905del" "r.(?)" "p.(Ala969LeufsTer4)" "" "0000307667" "00018378" "10" "292" "0" "292" "0" "c.292A>G" "r.(?)" "p.(Met98Val)" "" "0000307668" "00018378" "30" "3310" "0" "3310" "0" "c.3310C>G" "r.(?)" "p.(Pro1104Ala)" "" "0000307669" "00018378" "10" "3222" "0" "3222" "0" "c.3222G>A" "r.(?)" "p.(Ala1074=)" "" "0000307670" "00018378" "10" "3456" "0" "3456" "0" "c.3456C>T" "r.(?)" "p.(His1152=)" "" "0000307671" "00018378" "50" "3631" "0" "3631" "0" "c.3631G>A" "r.(?)" "p.(Val1211Ile)" "" "0000307672" "00018378" "50" "3927" "0" "3927" "0" "c.3927C>A" "r.(?)" "p.(Phe1309Leu)" "" "0000307673" "00018378" "50" "3665" "0" "3665" "0" "c.3665C>T" "r.(?)" "p.(Ala1222Val)" "" "0000307675" "00018378" "10" "3872" "0" "3872" "0" "c.3872A>G" "r.(?)" "p.(Asn1291Ser)" "" "0000307676" "00018378" "30" "3915" "0" "3915" "0" "c.3915C>T" "r.(?)" "p.(Asn1305=)" "" "0000307677" "00018378" "10" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Ser159Gly)" "" "0000307678" "00018378" "10" "76" "36" "76" "37" "c.76+36_76+37del" "r.(=)" "p.(=)" "" "0000307679" "00018378" "50" "787" "0" "787" "0" "c.787G>T" "r.(?)" "p.(Asp263Tyr)" "" "0000307680" "00018378" "10" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Pro270Leu)" "" "0000307681" "00018378" "50" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Ser305Asn)" "" "0000307682" "00018378" "90" "958" "0" "958" "0" "c.958del" "r.(?)" "p.(Gln320SerfsTer22)" "" "0000324761" "00018378" "30" "3872" "0" "3872" "0" "c.3872A>G" "r.(?)" "p.(Asn1291Ser)" "" "0000324762" "00018378" "30" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Gly1265Glu)" "" "0000324763" "00018378" "50" "3772" "0" "3772" "0" "c.3772G>A" "r.(?)" "p.(Gly1258Ser)" "" "0000324764" "00018378" "50" "2816" "0" "2816" "0" "c.2816A>G" "r.(?)" "p.(His939Arg)" "" "0000324765" "00018378" "50" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000324766" "00018378" "50" "1300" "0" "1300" "0" "c.1300A>G" "r.(?)" "p.(Thr434Ala)" "" "0000324767" "00018378" "50" "1257" "0" "1257" "0" "c.1257G>T" "r.(?)" "p.(Leu419Phe)" "" "0000324768" "00018378" "30" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Gly160Ser)" "" "0000324769" "00018378" "50" "469" "0" "477" "0" "c.469_477dup" "r.(?)" "p.(Ser157_Ser159dup)" "" "0000324770" "00018378" "30" "477" "0" "478" "0" "c.477_478insAGCGGC" "r.(?)" "p.(Ser159_Gly160insSerGly)" "" "0000324771" "00018378" "30" "475" "0" "477" "0" "c.475_477del" "r.(?)" "p.(Ser159del)" "" "0000324772" "00018378" "30" "469" "0" "477" "0" "c.469_477del" "r.(?)" "p.(Ser157_Ser159del)" "" "0000324774" "00018378" "50" "472" "0" "472" "0" "c.472A>G" "r.(?)" "p.(Ser158Gly)" "" "0000324776" "00018378" "50" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Pro130Leu)" "" "0000324777" "00018378" "30" "235" "0" "235" "0" "c.235G>C" "r.(?)" "p.(Ala79Pro)" "" "0000340224" "00018378" "10" "3456" "0" "3456" "0" "c.3456C>T" "r.(?)" "p.(His1152=)" "" "0000340866" "00018378" "10" "2574" "0" "2574" "0" "c.2574C>T" "r.(?)" "p.(Leu858=)" "" "0000350264" "00018378" "10" "3823" "0" "3823" "0" "c.3823G>A" "r.(?)" "p.(Val1275Ile)" "" "0000368956" "00018378" "70" "3437" "0" "3437" "0" "c.3437C>A" "r.(?)" "p.(Ser1146*)" "" "0000558373" "00018378" "10" "4063" "0" "4067" "0" "c.*88_*92dup" "r.(=)" "p.(=)" "" "0000558375" "00018378" "50" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Gly1265Glu)" "" "0000558376" "00018378" "50" "3674" "0" "3674" "0" "c.3674C>G" "r.(?)" "p.(Ser1225Ter)" "" "0000558377" "00018378" "50" "3331" "0" "3331" "0" "c.3331G>A" "r.(?)" "p.(Gly1111Arg)" "" "0000558378" "00018378" "30" "2619" "0" "2619" "0" "c.2619C>G" "r.(?)" "p.(Ile873Met)" "" "0000558380" "00018378" "30" "2511" "0" "2511" "0" "c.2511C>A" "r.(?)" "p.(Ile837=)" "" "0000558381" "00018378" "30" "1966" "0" "1966" "0" "c.1966A>G" "r.(?)" "p.(Thr656Ala)" "" "0000558382" "00018378" "30" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Thr636Met)" "" "0000558383" "00018378" "30" "1904" "0" "1904" "0" "c.1904C>T" "r.(?)" "p.(Pro635Leu)" "" "0000558384" "00018378" "30" "1904" "0" "1904" "0" "c.1904C>T" "r.(?)" "p.(Pro635Leu)" "" "0000558385" "00018378" "30" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Glu626Asp)" "" "0000558386" "00018378" "30" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Glu626Asp)" "" "0000558387" "00018378" "50" "1723" "0" "1723" "0" "c.1723C>T" "r.(?)" "p.(Pro575Ser)" "" "0000558389" "00018378" "90" "1488" "0" "1488" "0" "c.1488dup" "r.(?)" "p.(Gln497SerfsTer19)" "" "0000558390" "00018378" "30" "1322" "0" "1322" "0" "c.1322C>A" "r.(?)" "p.(Thr441Asn)" "" "0000558391" "00018378" "50" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Thr412Ile)" "" "0000558392" "00018378" "90" "1112" "0" "1112" "0" "c.1112C>G" "r.(?)" "p.(Ser371Ter)" "" "0000558393" "00018378" "50" "1049" "0" "1049" "0" "c.1049C>A" "r.(?)" "p.(Thr350Asn)" "" "0000558394" "00018378" "50" "845" "0" "845" "0" "c.845T>G" "r.(?)" "p.(Leu282Trp)" "" "0000558395" "00018378" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Ter)" "" "0000558396" "00018378" "30" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Pro270Leu)" "" "0000558397" "00018378" "30" "537" "0" "537" "0" "c.537C>T" "r.(?)" "p.(Leu179=)" "" "0000558399" "00018378" "50" "487" "0" "489" "0" "c.487_489dup" "r.(?)" "p.(Gly163dup)" "" "0000558404" "00018378" "30" "469" "0" "477" "0" "c.469_477del" "r.(?)" "p.(Ser157_Ser159del)" "" "0000558405" "00018378" "30" "469" "0" "477" "0" "c.469_477del" "r.(?)" "p.(Ser157_Ser159del)" "" "0000558406" "00018378" "10" "469" "0" "477" "0" "c.469_477dup" "r.(?)" "p.(Ser157_Ser159dup)" "" "0000558407" "00018378" "30" "469" "0" "477" "0" "c.469_477dup" "r.(?)" "p.(Ser157_Ser159dup)" "" "0000558409" "00018378" "10" "472" "0" "477" "0" "c.472_477dup" "r.(?)" "p.(Ser158_Ser159dup)" "" "0000558410" "00018378" "10" "475" "0" "477" "0" "c.475_477dup" "r.(?)" "p.(Ser159dup)" "" "0000558411" "00018378" "10" "475" "0" "477" "0" "c.475_477dup" "r.(?)" "p.(Ser159dup)" "" "0000558412" "00018378" "10" "475" "0" "477" "0" "c.475_477dup" "r.(?)" "p.(Ser159dup)" "" "0000558413" "00018378" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Ser137=)" "" "0000616026" "00018378" "50" "2338" "0" "2338" "0" "c.2338G>T" "r.(?)" "p.(Val780Phe)" "" "0000616027" "00018378" "30" "2332" "0" "2332" "0" "c.2332G>A" "r.(?)" "p.(Ala778Thr)" "" "0000616028" "00018378" "50" "591" "0" "591" "0" "c.591C>T" "r.(?)" "p.(Ile197=)" "" "0000616029" "00018378" "30" "477" "0" "478" "0" "c.477_478insAGCGGC" "r.(?)" "p.(Ser159_Gly160insSerGly)" "" "0000616030" "00018378" "30" "475" "0" "477" "0" "c.475_477dup" "r.(?)" "p.(Ser159dup)" "" "0000616031" "00018378" "90" "441" "0" "441" "0" "c.441dup" "r.(?)" "p.(Ala148ArgfsTer122)" "" "0000616032" "00018378" "30" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(His43=)" "" "0000649343" "00018378" "30" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Gly1265Glu)" "" "0000657866" "00018378" "10" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Pro130=)" "" "0000657867" "00018378" "30" "239" "0" "239" "0" "c.239C>A" "r.(?)" "p.(Ser80Tyr)" "" "0000680594" "00018378" "50" "3917" "0" "3917" "0" "c.3917G>A" "r.(?)" "p.(Gly1306Glu)" "" "0000692082" "00018378" "30" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Gly1265Glu)" "" "0000692083" "00018378" "30" "787" "0" "787" "0" "c.787G>T" "r.(?)" "p.(Asp263Tyr)" "" "0000692084" "00018378" "30" "472" "0" "477" "0" "c.472_477dup" "r.(?)" "p.(Ser158_Ser159dup)" "" "0000692085" "00018378" "10" "472" "0" "477" "0" "c.472_477dup" "r.(?)" "p.(Ser158_Ser159dup)" "" "0000692086" "00018378" "30" "109" "0" "109" "0" "c.109A>T" "r.(?)" "p.(Thr37Ser)" "" "0000699876" "00018378" "70" "3771" "0" "3771" "0" "c.3771C>G" "r.(?)" "p.(Asn1257Lys)" "" "0000725829" "00018378" "30" "3631" "0" "3631" "0" "c.3631G>A" "r.(?)" "p.(Val1211Ile)" "" "0000725830" "00018378" "30" "469" "0" "477" "0" "c.469_477del" "r.(?)" "p.(Ser157_Ser159del)" "" "0000725831" "00018378" "30" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Val74Ile)" "" "0000807437" "00018378" "50" "3943" "0" "3943" "0" "c.3943G>A" "r.(?)" "p.(Val1315Met)" "" "0000807438" "00018378" "50" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Pro94Leu)" "" "0000847333" "00018378" "10" "400" "0" "411" "0" "c.400_411dup" "r.(?)" "p.(Lys134_Ser137dup)" "2" "0000847334" "00018378" "10" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Ser159Gly)" "2" "0000847335" "00018378" "10" "475" "0" "477" "0" "c.475_477del" "r.(?)" "p.(Ser159del)" "2" "0000847336" "00018378" "30" "2804" "0" "2804" "0" "c.2804C>T" "r.(?)" "p.(Thr935Met)" "2" "0000847337" "00018378" "10" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Gly1265Glu)" "2" "0000847338" "00018378" "10" "3823" "0" "3823" "0" "c.3823G>A" "r.(?)" "p.(Val1275Ile)" "2" "0000847339" "00018378" "10" "3872" "0" "3872" "0" "c.3872A>G" "r.(?)" "p.(Asn1291Ser)" "2" "0000847530" "00018378" "10" "2574" "0" "2574" "0" "c.2574C>T" "r.(=)" "p.(Leu858=)" "1" "0000854538" "00018378" "30" "549" "0" "549" "0" "c.549A>G" "r.(?)" "p.(Thr183=)" "" "0000854539" "00018378" "10" "475" "0" "477" "0" "c.475_477del" "r.(?)" "p.(Ser159del)" "" "0000854540" "00018378" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Ser137=)" "" "0000864828" "00018378" "30" "379" "0" "379" "0" "c.379G>C" "r.(?)" "p.(Val127Leu)" "" "0000893039" "00018378" "30" "3964" "0" "3964" "0" "c.3964G>A" "r.(?)" "p.(Val1322Ile)" "" "0000893040" "00018378" "50" "2184" "0" "2184" "0" "c.2184C>A" "r.(?)" "p.(His728Gln)" "" "0000893041" "00018378" "50" "472" "0" "477" "0" "c.472_477del" "r.(?)" "p.(Ser158_Ser159del)" "" "0000893042" "00018378" "30" "472" "0" "477" "0" "c.472_477dup" "r.(?)" "p.(Ser158_Ser159dup)" "" "0000893043" "00018378" "90" "364" "0" "364" "0" "c.364G>T" "r.(?)" "p.(Glu122*)" "" "0000914639" "00018378" "30" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Gly160Ser)" "" "0000926300" "00018378" "50" "1881" "0" "1882" "0" "c.1881_1882insCGT" "r.(?)" "p.(Ser627_Gly628insArg)" "" "0000930614" "00018378" "30" "3420" "0" "3420" "0" "c.3420C>A" "r.(?)" "p.(=)" "" "0000930615" "00018378" "30" "787" "0" "787" "0" "c.787G>T" "r.(?)" "p.(Asp263Tyr)" "" "0000930616" "00018378" "90" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Gln238*)" "" "0000944303" "00018378" "90" "1430" "0" "1430" "0" "c.1430dup" "r.(?)" "p.(Lys478Glnfs*38)" "" "0000944304" "00018378" "90" "1430" "0" "1430" "0" "c.1430dup" "r.(?)" "p.(Lys478Glnfs*38)" "" "0000950676" "00018378" "30" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Gly1265Glu)" "" "0000950677" "00018378" "50" "3685" "0" "3685" "0" "c.3685G>A" "r.(?)" "p.(Asp1229Asn)" "" "0000968390" "00018378" "30" "2460" "0" "2460" "0" "c.2460C>T" "r.(?)" "p.(=)" "" "0000981931" "00018378" "30" "2645" "0" "2645" "0" "c.2645A>T" "r.(?)" "p.(Gln882Leu)" "" "0000981932" "00018378" "30" "2178" "0" "2178" "0" "c.2178G>A" "r.(?)" "p.(Arg726=)" "" "0000981933" "00018378" "50" "174" "0" "176" "0" "c.174_176del" "r.(?)" "p.(Leu60del)" "" "0000981934" "00018378" "30" "30" "0" "30" "0" "c.30A>G" "r.(?)" "p.(=)" "" "0001002397" "00018378" "30" "3232" "0" "3232" "0" "c.3232G>A" "r.(?)" "p.(Ala1078Thr)" "" "0001002398" "00018378" "30" "2987" "0" "2987" "0" "c.2987G>A" "r.(?)" "p.(Gly996Asp)" "" "0001002399" "00018378" "50" "2852" "0" "2852" "0" "c.2852C>T" "r.(?)" "p.(Ala951Val)" "" "0001002400" "00018378" "50" "2561" "0" "2561" "0" "c.2561C>T" "r.(?)" "p.(Ser854Leu)" "" "0001002401" "00018378" "50" "2270" "0" "2270" "0" "c.2270G>A" "r.(?)" "p.(Arg757His)" "" "0001002402" "00018378" "50" "2029" "0" "2029" "0" "c.2029G>A" "r.(?)" "p.(Gly677Arg)" "" "0001002403" "00018378" "30" "2008" "0" "2008" "0" "c.2008T>C" "r.(?)" "p.(Phe670Leu)" "" "0001002404" "00018378" "30" "1966" "0" "1966" "0" "c.1966A>G" "r.(?)" "p.(Thr656Ala)" "" "0001002405" "00018378" "50" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(His505Tyr)" "" "0001002406" "00018378" "30" "1313" "0" "1313" "0" "c.1313C>G" "r.(?)" "p.(Ala438Gly)" "" "0001002407" "00018378" "50" "1253" "0" "1253" "0" "c.1253C>G" "r.(?)" "p.(Ser418Cys)" "" "0001002408" "00018378" "30" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Ala398Thr)" "" "0001002409" "00018378" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Gly218Arg)" "" "0001002410" "00018378" "30" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Ser159Gly)" "" "0001002411" "00018378" "30" "472" "0" "472" "0" "c.472A>C" "r.(?)" "p.(Ser158Arg)" "" "0001002412" "00018378" "50" "117" "0" "130" "0" "c.117_130del" "r.(?)" "p.(Lys40Leufs*10)" "" "0001026716" "00018378" "30" "2804" "0" "2804" "0" "c.2804C>T" "r.(?)" "p.(Thr935Met)" "" "0001026717" "00018378" "90" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Gln394*)" "" "0001026718" "00018378" "30" "235" "0" "235" "0" "c.235G>C" "r.(?)" "p.(Ala79Pro)" "" "0001041167" "00018378" "30" "3915" "0" "3915" "0" "c.3915C>T" "r.(?)" "p.(Asn1305=)" "" "0001041168" "00018378" "30" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(=)" "" "0001041169" "00018378" "10" "2544" "0" "2544" "0" "c.2544A>G" "r.(?)" "p.(Gln848=)" "" "0001041170" "00018378" "30" "2310" "0" "2310" "0" "c.2310C>T" "r.(?)" "p.(=)" "" "0001041171" "00018378" "30" "976" "0" "976" "0" "c.976T>G" "r.(?)" "p.(Ser326Ala)" "" "0001041172" "00018378" "30" "549" "0" "549" "0" "c.549A>G" "r.(?)" "p.(Thr183=)" "" "0001041173" "00018378" "50" "466" "0" "477" "0" "c.466_477dup" "r.(?)" "p.(Ser156_Ser159dup)" "" "0001041174" "00018378" "30" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Pro130=)" "" "0001055574" "00018378" "50" "2909" "0" "2909" "0" "c.2909T>C" "r.(?)" "p.(Leu970Ser)" "" "0001055575" "00018378" "30" "2882" "0" "2882" "0" "c.2882C>T" "r.(?)" "p.(Ser961Phe)" "" "0001055576" "00018378" "30" "2863" "0" "2863" "0" "c.2863G>A" "r.(?)" "p.(Glu955Lys)" "" "0001055577" "00018378" "50" "2204" "0" "2204" "0" "c.2204A>G" "r.(?)" "p.(Lys735Arg)" "" "0001055578" "00018378" "50" "474" "0" "475" "0" "c.474_475del" "r.(?)" "p.(Ser158Argfs*111)" "" "0001055579" "00018378" "50" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Ser158Alafs*25)" "" "0001055580" "00018378" "50" "460" "0" "477" "0" "c.460_477dup" "r.(?)" "p.(Ser154_Ser159dup)" "" "0001055581" "00018378" "50" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Thr101Ala)" "" "0001059333" "00018378" "90" "286" "0" "286" "0" "c.286G>T" "r.(?)" "p.(Glu96*)" "2" "0001066494" "00018378" "50" "3719" "0" "3719" "0" "c.3719C>T" "r.(?)" "p.(Ala1240Val)" "" "0001066495" "00018378" "30" "2551" "0" "2551" "0" "c.2551T>A" "r.(?)" "p.(Leu851Ile)" "" "0001068426" "00018378" "70" "824" "0" "824" "0" "c.824T>G" "r.(?)" "p.(Leu275Ter)" "2" "0001068427" "00018378" "70" "1396" "0" "1406" "0" "c.1396_1406del" "r.(1396_1406del)" "p.(Ile466PhefsTer46)" "2" "0001068456" "00018378" "90" "824" "0" "824" "0" "c.824T>G" "r.(?)" "p.(Leu275Ter)" "" "0001068458" "00018378" "90" "1270" "0" "1270" "0" "c.1270del" "r.(1270del)" "p.(Gln424SerfsTer69)" "2" "0001068459" "00018378" "90" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Ser372Ter)" "2" "0001068460" "00018378" "90" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Ser372Ter)" "" "0001068461" "00018378" "90" "1270" "0" "1270" "0" "c.1270del" "r.(?)" "p.(Gln424SerfsTer69)" "" "0001068462" "00018378" "90" "1270" "0" "1270" "0" "c.1270del" "r.(?)" "p.(Gln424SerfsTer69)" "" "0001068463" "00018378" "90" "1270" "0" "1270" "0" "c.1270del" "r.(?)" "p.(Gln424SerfsTer69)" "" "0001068464" "00018378" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Ter)" "" "0001068465" "00018378" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Ter)" "" "0001068466" "00018378" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Ter)" "" "0001068467" "00018378" "90" "1115" "0" "1115" "0" "c.1115C>G" "r.(?)" "p.(Ser372Ter)" "" "0001068468" "00018378" "90" "1200" "0" "1206" "0" "c.1200_1206del" "r.(?)" "p.(Val401ProfsTer14)" "" "0001068469" "00018378" "90" "1200" "0" "1206" "0" "c.1200_1206del" "r.(?)" "p.(Val401ProfsTer14)" "" "0001068470" "00018378" "90" "1292" "0" "1301" "0" "c.1292_1301del" "r.(?)" "p.(Pro431LeufsTer59)" "" "0001068471" "00018378" "90" "1292" "0" "1301" "0" "c.1292_1301del" "r.(?)" "p.(Pro431LeufsTer59)" "" "0001068472" "00018378" "90" "420" "0" "420" "0" "c.420del" "r.(?)" "p.(Ser141AlafsTer42)" "" "0001068473" "00018378" "90" "1148" "0" "1148" "0" "c.1148del" "r.(?)" "p.(Leu383TyrfsTer2)" "" "0001068474" "00018378" "90" "1148" "0" "1148" "0" "c.1148del" "r.(?)" "p.(Leu383TyrfsTer2)" "" "0001068475" "00018378" "50" "1148" "0" "1148" "0" "c.1148del" "r.(?)" "p.(Leu383TyrfsTer2)" "" "0001068476" "00018378" "50" "1277" "0" "1278" "0" "c.1277_1278del" "r.(?)" "p.(Arg426LysfsTer11)" "" "0001068477" "00018378" "10" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Ser159Gly)" "" "0001068478" "00018378" "10" "475" "0" "477" "0" "c.475_477dup" "r.(?)" "p.(Ser159dup)" "" "0001068479" "00018378" "10" "475" "0" "477" "0" "c.475_477del" "r.(?)" "p.(Ser159del)" "" "0001068480" "00018378" "90" "1347" "0" "1348" "0" "c.1347_1348del" "r.1347_1348del" "p.His449GlnfsTer12" "" "0001068481" "00018378" "90" "1412" "0" "1412" "0" "c.1412dup" "r.1412dup" "p.His471GlnfsTer45" "" "0001068482" "00018378" "90" "1479" "0" "1480" "0" "c.1479_1480insAG" "r.1479_1480insAG" "p.Val494ArgfsTer16" "" "0001068483" "00018378" "90" "1566" "0" "1566" "0" "c.1566del" "r.1566del" "p.Thr522ArgfsTer21" "" "0001068484" "00018378" "90" "1487" "0" "2644" "0" "c.1487_2644delinsCAGGCA" "r.(1487_2644delinsCAGGCA)" "p.(Phe496_Gln882delinsSerGlyLys)" "" "0001068485" "00018378" "90" "826" "0" "826" "0" "c.826C>T" "r.826C>T" "p.Arg276Ter" "" "0001068486" "00018378" "90" "826" "0" "826" "0" "c.826C>T" "r.826C>T" "p.Arg276Ter" "" "0001068487" "00018378" "90" "826" "0" "826" "0" "c.826C>T" "r.826C>T" "p.Arg276Ter" "" "0001068488" "00018378" "90" "1966" "0" "1975" "0" "c.1966_1975del" "r.1966_1975del" "p.Thr656ProfsTer37" "" "0001068489" "00018378" "90" "0" "0" "0" "0" "c.=" "r.?" "p.?" "" "0001068490" "00018378" "90" "475" "0" "475" "0" "c.475A>G" "r.475A>G" "p.Ser159Gly" "" "0001068491" "00018378" "90" "475" "0" "477" "0" "c.475_477dup" "r.475_477dup" "p.Ser159dup" "" "0001068492" "00018378" "90" "490" "0" "492" "0" "c.490_492del" "r.490_492del" "p.Ser166del" "" "0001068493" "00018378" "50" "2178" "0" "2178" "0" "c.2178G>A" "r.2178G>A" "p.Arg726=" "" "0001068494" "00018378" "50" "2574" "0" "2574" "0" "c.2574C>T" "r.2574C>T" "p.Leu858=" "" "0001068495" "00018378" "10" "3794" "0" "3794" "0" "c.3794G>A" "r.3794G>A" "p.Gly1265Glu" "" "0001068499" "00018378" "70" "1821" "0" "1821" "0" "c.1821del" "r.(1821del)" "p.(Leu608SerfsTer35)" "2" "0001068500" "00018378" "90" "792" "0" "793" "0" "c.792_793del" "r.(792_793del)" "p.(Leu264PhefsTer5)" "" "0001068501" "00018378" "90" "967" "0" "967" "0" "c.967C>T" "r.(?)" "p.(Gln323Ter)" "" "0001068502" "00018378" "90" "1256" "0" "1256" "0" "c.1256T>A" "r.(?)" "p.(Leu419Ter)" "" "0001068503" "00018378" "10" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Pro270Leu)" "" "0001068504" "00018378" "90" "995" "0" "995" "0" "c.995del" "r.995del" "p.Pro332HisfsTer10" "2" "0001068505" "00018378" "90" "3414" "0" "3415" "0" "c.3414_3415del" "r.3414_3415del" "p.Cys1139TrpfsTer35" "" "0001068509" "00018378" "90" "313" "0" "313" "0" "c.313del" "r.(?)" "p.(Thr105GlnfsTer78)" "" "0001068510" "00018378" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Gln272Ter)" "" "0001068511" "00018378" "90" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Gln301Ter)" "" "0001068512" "00018378" "90" "995" "0" "995" "0" "c.995del" "r.(?)" "p.(Pro332HisfsTer10)" "" "0001068513" "00018378" "90" "1045" "0" "1045" "0" "c.1045dup" "r.(?)" "p.(Thr349AsnfsTer6)" "" "0001068514" "00018378" "90" "1047" "0" "1047" "0" "c.1047dup" "r.(?)" "p.(Thr350HisfsTer5)" "" "0001068515" "00018378" "90" "1047" "0" "1047" "0" "c.1047dup" "r.(?)" "p.(Thr350HisfsTer5)" "" "0001068516" "00018378" "90" "1065" "0" "1065" "0" "c.1065dup" "r.(?)" "p.(Val356SerfsTer34)" "" "0001068517" "00018378" "90" "1065" "0" "1065" "0" "c.1065dup" "r.(?)" "p.(Val356SerfsTer34)" "" "0001068518" "00018378" "90" "1065" "0" "1065" "0" "c.1065dup" "r.(?)" "p.(Val356SerfsTer34)" "" "0001068519" "00018378" "90" "1065" "0" "1065" "0" "c.1065dup" "r.(?)" "p.(Val356SerfsTer34)" "" "0001068520" "00018378" "90" "1065" "0" "1065" "0" "c.1065dup" "r.(?)" "p.(Val356SerfsTer34)" "" "0001068521" "00018378" "90" "1084" "0" "1085" "0" "c.1084_1085del" "r.(?)" "p.(Ala362LeufsTer27)" "" "0001068522" "00018378" "90" "1119" "0" "1197" "0" "c.1119_1197del" "r.(?)" "p.(Ser374ArgfsTer17)" "" "0001068523" "00018378" "90" "1134" "0" "1134" "0" "c.1134del" "r.(?)" "p.(Phe378LeufsTer3)" "" "0001068524" "00018378" "90" "1174" "0" "1175" "0" "c.1174_1175del" "r.(?)" "p.(Leu392ThrfsTer7)" "" "0001068525" "00018378" "90" "1228" "0" "1228" "0" "c.1228G>T" "r.(?)" "p.(Gly410Ter)" "" "0001068526" "00018378" "90" "1273" "0" "1273" "0" "c.1273del" "r.(?)" "p.(Gln425LysfsTer68)" "" "0001068527" "00018378" "90" "1273" "0" "1273" "0" "c.1273del" "r.(?)" "p.(Gln425LysfsTer68)" "" "0001068528" "00018378" "90" "1417" "0" "1427" "0" "c.1417_1427del" "r.(?)" "p.(Gly473IlefsTer39)" "" "0001068529" "00018378" "90" "1503" "0" "1504" "0" "c.1503_1504del" "r.(?)" "p.(Lys502IlefsTer13)" "" "0001068530" "00018378" "90" "1516" "0" "1517" "0" "c.1516_1517dup" "r.(?)" "p.(Gln507SerfsTer3)" "" "0001068531" "00018378" "90" "1516" "0" "1517" "0" "c.1516_1517dup" "r.(?)" "p.(Gln507SerfsTer3)" "" "0001068532" "00018378" "90" "2256" "0" "2256" "0" "c.2256del" "r.(?)" "p.(Tyr753ThrfsTer69)" "" "0001068533" "00018378" "90" "3019" "0" "3032" "0" "c.3019_3032dup" "r.(?)" "p.(Cys1012AlafsTer38)" "" "0001068534" "00018378" "90" "3019" "0" "3032" "0" "c.3019_3032dup" "r.(?)" "p.(Cys1012AlafsTer38)" "" "0001068535" "00018378" "90" "3249" "0" "3255" "0" "c.3249_3255del" "r.(?)" "p.(Leu1084ArgfsTer118)" "" "0001068536" "00018378" "90" "3249" "0" "3255" "0" "c.3249_3255del" "r.(?)" "p.(Leu1084ArgfsTer118)" "" "0001068537" "00018378" "90" "3249" "0" "3255" "0" "c.3249_3255del" "r.(?)" "p.(Leu1084ArgfsTer118)" "" "0001068538" "00018378" "90" "3414" "0" "3415" "0" "c.3414_3415del" "r.(?)" "p.(Cys1139TrpfsTer35)" "" "0001068539" "00018378" "90" "3414" "0" "3415" "0" "c.3414_3415del" "r.(?)" "p.(Cys1139TrpfsTer35)" "" "0001068540" "00018378" "90" "3414" "0" "3415" "0" "c.3414_3415del" "r.(?)" "p.(Cys1139TrpfsTer35)" "" "0001068542" "00018378" "90" "764" "0" "764" "0" "c.764del" "r.(?)" "p.(Leu255CysfsTer31)" "" "0001068543" "00018378" "90" "764" "0" "764" "0" "c.764del" "r.(?)" "p.(Leu255CysfsTer31)" "" "0001068544" "00018378" "90" "778" "0" "778" "0" "c.778C>T" "r.(?)" "p.(Gln260Ter)" "" "0001068545" "00018378" "90" "778" "0" "778" "0" "c.778C>T" "r.(?)" "p.(Gln260Ter)" "" "0001068546" "00018378" "90" "940" "0" "940" "0" "c.940A>T" "r.(?)" "p.(Lys314Ter)" "" "0001068547" "00018378" "90" "1029" "0" "1030" "0" "c.1029_1030del" "r.(?)" "p.(Leu344GlyfsTer10)" "" "0001068548" "00018378" "90" "1124" "0" "1124" "0" "c.1124del" "r.(?)" "p.(Ser375TyrfsTer6)" "" "0001068549" "00018378" "90" "1146" "0" "1147" "0" "c.1146_1147insAT" "r.(?)" "p.(Leu383IlefsTer3)" "" "0001068550" "00018378" "90" "1263" "0" "1263" "0" "c.1263del" "r.(?)" "p.(Leu422TrpfsTer71)" "" "0001068551" "00018378" "90" "1321" "0" "1321" "0" "c.1321dup" "r.(?)" "p.(Thr441AsnfsTer4)" "" "0001068552" "00018378" "90" "1327" "0" "1327" "0" "c.1327del" "r.(?)" "p.(Asp443MetfsTer50)" "" "0001068553" "00018378" "90" "1327" "0" "1327" "0" "c.1327del" "r.(?)" "p.(Asp443MetfsTer50)" "" "0001068554" "00018378" "90" "1374" "0" "1374" "0" "c.1374del" "r.(?)" "p.(Phe458LeufsTer35)" "" "0001068555" "00018378" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(?)" "p.(Arg469AlafsTer47)" "" "0001068556" "00018378" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(?)" "p.(Arg469AlafsTer47)" "" "0001068557" "00018378" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(?)" "p.(Arg469AlafsTer47)" "" "0001068558" "00018378" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(?)" "p.(Arg469AlafsTer47)" "" "0001068559" "00018378" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(?)" "p.(Arg469AlafsTer47)" "" "0001068560" "00018378" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(?)" "p.(Arg469AlafsTer47)" "" "0001068561" "00018378" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(?)" "p.(Arg469AlafsTer47)" "" "0001068562" "00018378" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(?)" "p.(Arg469AlafsTer47)" "" "0001068563" "00018378" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(?)" "p.(Arg469AlafsTer47)" "" "0001068564" "00018378" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(?)" "p.(Arg469AlafsTer47)" "" "0001068565" "00018378" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(?)" "p.(Arg469AlafsTer47)" "" "0001068566" "00018378" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(?)" "p.(Arg469AlafsTer47)" "" "0001068567" "00018378" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(?)" "p.(Arg469AlafsTer47)" "" "0001068568" "00018378" "90" "1543" "0" "1543" "0" "c.1543G>T" "r.(?)" "p.(Glu515Ter)" "" "0001068569" "00018378" "90" "1543" "0" "1543" "0" "c.1543G>T" "r.(?)" "p.(Glu515Ter)" "" "0001068570" "00018378" "90" "1543" "0" "1543" "0" "c.1543G>T" "r.(?)" "p.(Glu515Ter)" "" "0001068571" "00018378" "90" "818" "0" "818" "0" "c.818del" "r.(818del)" "p.(Gly273Valfs*13)" "" "0001068572" "00018378" "90" "3535" "-19" "3535" "-19" "c.3535-19T>A" "r.3534_3535ins3535-17_3535-1" "p.Val1179ProfsTer31" "2i" "0001068573" "00018378" "90" "843" "0" "843" "0" "c.843del" "r.(843del)" "p.(Leu282CysfsTer4)" "" "0001068575" "00018378" "90" "1509" "0" "1509" "0" "c.1509C>A" "r.(?)" "p.(Tyr503Ter)" "" "0001068577" "00018378" "90" "1256" "0" "1256" "0" "c.1256del" "r.(1256del)" "p.(Leu419CysfsTer74)" "" "0001068578" "00018378" "90" "2779" "0" "2779" "0" "c.2779C>T" "r.(?)" "p.(Gln927Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 129 "{{screeningid}}" "{{variantid}}" "0000165297" "0000368956" "0000292654" "0000649343" "0000317352" "0000699876" "0000410084" "0000847333" "0000410085" "0000847334" "0000410086" "0000847335" "0000410087" "0000847336" "0000410088" "0000847337" "0000410089" "0000847338" "0000410090" "0000847339" "0000410254" "0000847530" "0000442950" "0000944303" "0000442951" "0000944304" "0000471202" "0001059333" "0000474165" "0001068426" "0000474166" "0001068427" "0000474180" "0001068456" "0000474181" "0001068458" "0000474182" "0001068459" "0000474183" "0001068460" "0000474184" "0001068461" "0000474185" "0001068462" "0000474186" "0001068463" "0000474187" "0001068464" "0000474188" "0001068465" "0000474189" "0001068466" "0000474190" "0001068467" "0000474191" "0001068468" "0000474192" "0001068469" "0000474193" "0001068470" "0000474194" "0001068471" "0000474195" "0001068472" "0000474196" "0001068473" "0000474197" "0001068474" "0000474198" "0001068475" "0000474199" "0001068476" "0000474200" "0001068477" "0000474201" "0001068478" "0000474202" "0001068479" "0000474203" "0001068480" "0000474204" "0001068481" "0000474205" "0001068482" "0000474206" "0001068483" "0000474207" "0001068484" "0000474208" "0001068485" "0000474209" "0001068486" "0000474210" "0001068487" "0000474211" "0001068488" "0000474214" "0001068489" "0000474215" "0001068490" "0000474216" "0001068491" "0000474217" "0001068492" "0000474218" "0001068493" "0000474219" "0001068494" "0000474220" "0001068495" "0000474221" "0001068499" "0000474222" "0001068500" "0000474223" "0001068501" "0000474224" "0001068502" "0000474224" "0001068503" "0000474225" "0001068504" "0000474226" "0001068505" "0000474230" "0001068509" "0000474231" "0001068510" "0000474232" "0001068511" "0000474233" "0001068512" "0000474234" "0001068513" "0000474235" "0001068514" "0000474236" "0001068515" "0000474237" "0001068516" "0000474238" "0001068517" "0000474239" "0001068518" "0000474240" "0001068519" "0000474241" "0001068520" "0000474242" "0001068521" "0000474243" "0001068522" "0000474244" "0001068523" "0000474245" "0001068524" "0000474246" "0001068525" "0000474247" "0001068526" "0000474248" "0001068527" "0000474249" "0001068528" "0000474250" "0001068529" "0000474251" "0001068530" "0000474252" "0001068531" "0000474253" "0001068532" "0000474254" "0001068533" "0000474255" "0001068534" "0000474256" "0001068535" "0000474257" "0001068536" "0000474258" "0001068537" "0000474259" "0001068538" "0000474260" "0001068539" "0000474261" "0001068540" "0000474263" "0001068542" "0000474264" "0001068543" "0000474265" "0001068544" "0000474266" "0001068545" "0000474267" "0001068546" "0000474268" "0001068547" "0000474269" "0001068548" "0000474270" "0001068549" "0000474271" "0001068550" "0000474272" "0001068551" "0000474273" "0001068552" "0000474274" "0001068553" "0000474275" "0001068554" "0000474276" "0001068555" "0000474277" "0001068556" "0000474278" "0001068557" "0000474279" "0001068558" "0000474280" "0001068559" "0000474281" "0001068560" "0000474282" "0001068561" "0000474283" "0001068562" "0000474284" "0001068563" "0000474285" "0001068564" "0000474286" "0001068565" "0000474287" "0001068566" "0000474288" "0001068567" "0000474289" "0001068568" "0000474290" "0001068569" "0000474291" "0001068570" "0000474292" "0001068571" "0000474293" "0001068572" "0000474294" "0001068573" "0000474295" "0001068575" "0000474296" "0001068577" "0000474297" "0001068578"