### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM216) # 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}}" "TMEM216" "transmembrane protein 216" "11" "q13.1" "unknown" "NC_000011.9" "UD_132976792784" "" "https://www.LOVD.nl/TMEM216" "" "1" "25018" "51259" "613277" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome. We gratefully acknowledge the efforts of Anne Polvi for acting as a curator for this database until 2018." "" "g" "https://databases.lovd.nl/shared/refseq/TMEM216_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-10 16:26:12" "00006" "2024-09-10 17:05:17" ## 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}}" "00025629" "TMEM216" "transcript variant 2" "001" "NM_001173990.2" "" "NP_001167461.1" "" "" "" "-272" "1025" "438" "61159832" "61166335" "00006" "2021-08-02 10:36:00" "" "" ## 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}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "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" "00957" "JBTS2" "Joubert syndrome, type 2" "AR" "608091" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-09-09 19:40:44" "00958" "MKS2" "Meckel syndrome, type 2" "AR" "603194" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-09-09 19:41:03" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "TMEM216" "00112" "TMEM216" "00139" "TMEM216" "00957" "TMEM216" "00958" ## Individuals ## Do not remove or alter this header ## ## Count = 185 "{{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}}" "00000099" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00204378" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "New Zealander" "" "00204379" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "New Zealander" "" "00204380" "" "" "" "1" "" "00000" "" "MKS and JSRDs coexisted in the same sibship" "M" "" "" "" "0" "" "" "Turkish" "" "00204381" "" "" "" "1" "" "00000" "" "MKS and JSRDs coexisted in the same sibship" "M" "" "" "" "0" "" "" "Turkish" "" "00204382" "" "" "" "1" "" "00000" "" "Fetus, MKS and JSRDs coexisted in the same sibship" "M" "" "" "" "0" "" "" "Turkish" "" "00204383" "" "" "" "1" "" "00000" "" "Fetus, MKS and JSRDs coexisted in the same sibship" "M" "" "" "" "0" "" "" "Turkish" "" "00204384" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204385" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204386" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204387" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204388" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204389" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204390" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204391" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204392" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204393" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204394" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204395" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204396" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204397" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204398" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204399" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204400" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204401" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204402" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204403" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204404" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204405" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204406" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204407" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204408" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204409" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204410" "" "" "" "1" "" "00000" "{PMID:Valente 2003:12908130}" "" "M" "" "" "" "0" "" "" "Italian" "" "00204411" "" "" "" "1" "" "00000" "{PMID:Valente 2003:12908130}" "" "M" "" "" "" "0" "" "" "Italian" "" "00204412" "" "" "" "1" "" "00000" "{PMID:Valente 2003:12908130}" "" "F" "" "" "" "0" "" "" "Italian" "" "00204413" "" "" "" "1" "" "00000" "{PMID:Valente 2003:12908130}" "" "F" "" "" "" "0" "" "" "Italian" "" "00204414" "" "" "" "1" "" "00000" "{PMID:Valente 2003:12908130}" "" "F" "" "" "" "0" "" "" "Italian" "" "00204415" "" "" "" "1" "" "00000" "{PMID:Valente 2003:12908130}" "" "F" "" "" "" "0" "" "" "Italian" "" "00204416" "" "" "" "1" "" "00000" "{PMID:Valente 2003:12908130}" "" "M" "" "" "" "0" "" "" "Italian" "" "00204417" "" "" "" "1" "" "00000" "{PMID:Valente 2003:12908130}" "" "M" "" "" "" "0" "" "" "Italian" "" "00204418" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Italian" "" "00204419" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Italian" "" "00204420" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204421" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204422" "" "" "" "1" "" "00000" "" "Fetus" "?" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204423" "" "" "" "1" "" "00000" "" "Fetus" "?" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204424" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204425" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204426" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Europe" "" "00204427" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Europe" "" "00204428" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Europe" "" "00204429" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Europe" "" "00204430" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204431" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204432" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204433" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204434" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204435" "" "" "" "1" "" "00000" "" "Fetus" "?" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204436" "" "" "" "1" "" "00000" "" "Fetus" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204437" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204438" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204439" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204440" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204441" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204442" "" "" "" "2" "" "00000" "" "Fetus" "?" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204443" "" "" "" "2" "" "00000" "" "Fetus" "?" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204444" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204445" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204446" "" "" "" "1" "" "00000" "" "cousin" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204447" "" "" "" "1" "" "00000" "" "cousin" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204448" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204449" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00204450" "" "" "" "1" "" "00000" "" "Fetus" "?" "" "" "" "0" "" "" "Palestinian" "" "00204451" "" "" "" "1" "" "00000" "" "Fetus" "?" "" "" "" "0" "" "" "Palestinian" "" "00204452" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "Palestinian" "" "00204453" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "Palestinian" "" "00204454" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "Palestinian" "" "00204455" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "Palestinian" "" "00204456" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Palestinian" "" "00204457" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Palestinian" "" "00204458" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "Palestinian" "" "00204459" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "Palestinian" "" "00204460" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "Palestinian" "" "00204461" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "Palestinian" "" "00204462" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "British" "" "00204463" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "British" "" "00204464" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "British" "" "00204465" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "British" "" "00204466" "" "" "" "1" "" "00000" "{PMID:Roume 1998:9758620}" "" "M" "" "" "" "0" "" "" "Tunisian" "" "00204467" "" "" "" "1" "" "00000" "{PMID:Roume 1998:9758620}" "" "M" "" "" "" "0" "" "" "Tunisian" "" "00204468" "" "" "" "1" "" "00000" "{PMID:Roume 1998:9758620}" "" "F" "" "" "" "0" "" "" "Tunisian" "" "00204469" "" "" "" "1" "" "00000" "{PMID:Roume 1998:9758620}" "" "F" "" "" "" "0" "" "" "Tunisian" "" "00204470" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Tunisian" "" "00204471" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Tunisian" "" "00204472" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "New Zealander" "" "00204473" "" "" "" "1" "" "00000" "" "" "?" "" "" "" "0" "" "" "New Zealander" "" "00204474" "" "" "" "3" "" "02984" "" "3 Palestinian families (6 patients)" "" "" "" "" "0" "" "" "Palestinian" "" "00204475" "" "" "" "1" "" "02984" "" "1 British family (2 patients)" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "British" "" "00372326" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW040-5" "00372327" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW066-3" "00372328" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW189-3" "00372329" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW192-3" "00372330" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW193-3" "00372331" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW198-3" "00372332" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW223-3" "00372333" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW224-3" "00372334" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW233-3" "00372335" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW233-4" "00372336" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW234-11" "00372337" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW234-17" "00372338" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW234-3" "00372339" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW234-4" "00372340" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW234-5" "00372341" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW251-3" "00372383" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW319-3" "00377681" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 68" "F" "" "United States" "" "0" "" "" "" "396" "00377682" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 69" "M" "" "United States" "" "0" "" "" "" "408" "00380365" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00385286" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00388082" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "396" "00388084" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "408" "00395598" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-2184" "00453499" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "M" "no" "Nigeria" "" "0" "" "" "Africa;black" "FamT1Pat" "00453500" "" "" "" "2" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 2 affected sister, unaffected parents" "F" "no" "Nigeria" "" "0" "" "" "Africa;black" "FamT2PatA" "00453501" "" "" "00453500" "1" "" "00006" "{PMID:Malka 2024:39191256}" "sister" "F" "no" "Nigeria" "" "0" "" "" "Africa;black" "FamT2PatB" "00453502" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "M" "no" "Nigeria" "" "0" "" "" "Africa;black" "FamT3Pat" "00453503" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "no" "Barbados" "" "0" "" "" "Caribbean;black" "FamT4Pat" "00453504" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "M" "no" "" "" "0" "" "" "Africa;black" "FamT5Pat" "00453505" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "no" "Zimbabwe" "" "0" "" "" "Africa;black" "FamT6Pat" "00453506" "" "" "" "2" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 2 affected brother, unaffected parents" "F" "no" "Nigeria" "" "0" "" "" "Africa;black" "FamT7PatA" "00453507" "" "" "00453506" "1" "" "00006" "{PMID:Malka 2024:39191256}" "relative" "M" "no" "Nigeria" "" "0" "" "" "Africa;black" "FamT7PatB" "00453508" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "no" "Jamaica" "" "0" "" "" "Africa;black;Caribbean;black" "FamT8Pat" "00453509" "" "" "" "2" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 2 affected brother, unaffected parents" "M" "no" "Jamaica;Barbados" "" "0" "" "" "Caribbean;black" "FamT9PatA" "00453510" "" "" "00453509" "1" "" "00006" "{PMID:Malka 2024:39191256}" "relative" "M" "no" "Jamaica;Barbados" "" "0" "" "" "Caribbean;black" "FamT9PatB" "00453511" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "no" "" "" "0" "" "" "Africa;black" "FamT10Pat" "00453512" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "no" "" "" "0" "" "" "Africa;black" "Fam11Pat" "00453513" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "no" "Zimbabwe" "" "0" "" "" "Africa;black" "FamT12Pat" "00453514" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "no" "Nigeria" "" "0" "" "" "Africa;black" "FamT13Pat" "00453515" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "no" "Nigeria" "" "0" "" "" "Africa;black" "FamT14Pat" "00453516" "" "" "" "2" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 2 affected brother, unaffected parents" "F" "" "" "" "0" "" "" "Africa;black" "FamT15PatA" "00453517" "" "" "00453516" "1" "" "00006" "{PMID:Malka 2024:39191256}" "relative" "F" "" "" "" "0" "" "" "Africa;black" "FamT15PatB" "00453518" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "M" "" "" "" "0" "" "" "Africa;black" "FamT16Pat" "00453519" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "" "" "" "0" "" "" "black;Caribbean" "FamT17Pat" "00453520" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "M" "" "" "" "0" "" "" "Africa;black" "FamT18Pat" "00453521" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "" "" "" "0" "" "" "Africa;black" "FamT19Pat" "00453522" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Nigeria" "" "0" "" "" "Africa;black" "FamT20Pat" "00453523" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Nigeria" "" "0" "" "" "Africa;black" "FamT21Pat" "00453524" "" "" "" "2" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, affected brother/sister, unaffected parents" "M" "yes" "" "" "0" "" "" "Africa;black" "FamT22Pat" "00453525" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Haiti" "" "0" "" "" "Caribbean;black" "FamT23Pat" "00453526" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Angola" "" "0" "" "" "Africa" "FamT24Pat" "00453527" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 1 affected, unaffected parents" "F" "no" "United States" "" "0" "" "" "African American" "FamT25Pat" "00453528" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 1 affected, unaffected parents" "F" "no" "United States" "" "0" "" "" "African American" "FamT26Pat" "00453529" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 1 affected, unaffected parents" "F" "no" "" "" "0" "" "" "black;Caribbean" "FamT27Pat" "00453530" "" "" "" "2" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 2 affected, unaffected parents" "M" "no" "" "" "0" "" "" "black;Caribbean" "FamT28Pat" "00453531" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 1 affected, unaffected parents" "F" "no" "United States" "" "0" "" "" "African American" "FamT29Pat" "00453532" "" "" "" "2" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 2 affected, unaffected parents" "M" "no" "United States" "" "0" "" "" "African American" "FamT30Pat" "00453533" "" "" "" "2" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 2 affected sisters, unaffected parents" "F" "no" "Jamaica" "" "0" "" "" "Caribbean;black" "FamT31Pat" "00453534" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 1 affected, unaffected parents" "F" "no" "United States" "" "0" "" "" "African American" "FamT32Pat" "00453535" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Algeria" "" "0" "" "" "Africa" "FamT33Pat" "00453536" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "M" "no" "" "" "0" "" "" "Africa;black" "FamT34Pat" "00453537" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "no" "" "" "0" "" "" "black;Caribbean" "FamT35Pat" "00453538" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "M" "no" "" "" "0" "" "" "black;Caribbean" "FamT36Pat" "00453539" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "no" "Ghana" "" "0" "" "" "Africa;black" "FamT37Pat" "00453540" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "" "" "" "0" "" "" "Africa" "FamT38Pat" "00453541" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 1 affected, unaffected parents" "F" "no" "" "" "0" "" "" "black;Caribbean" "FamM1Pat" "00453542" "" "" "" "2" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Zimbabwe" "" "0" "" "" "Africa;black" "FamM2PatA" "00453543" "" "" "00453542" "1" "" "00006" "{PMID:Malka 2024:39191256}" "brother" "M" "no" "Zimbabwe" "" "0" "" "" "Africa;black" "FamM2PatB" "00453544" "" "" "" "2" "" "00006" "{PMID:Malka 2024:39191256}" "2-generation family, 2 affected, unaffected parents" "M" "yes" "Pakistan" "" "0" "" "" "" "FamA1PatA" "00453545" "" "" "00453544" "1" "" "00006" "{PMID:Malka 2024:39191256}" "relative" "M" "yes" "Pakistan" "" "0" "" "" "" "FamA1PatB" "00453546" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "M" "yes" "Bangladesh" "" "0" "" "" "" "FamA2Pat" "00453547" "" "" "" "1" "" "00006" "{PMID:Malka 2024:39191256}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamA3Pat" "00453548" "" "" "" "8" "" "00006" "{PMID:Malka 2024:39191256}" "4-generation family, 8 affected (8M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamA4PatA" "00453549" "" "" "00453548" "1" "" "00006" "{PMID:Malka 2024:39191256}" "relative" "M" "yes" "Pakistan" "" "0" "" "" "" "FamA4PatB" "00453550" "" "" "00453548" "1" "" "00006" "{PMID:Malka 2024:39191256}" "relative" "M" "yes" "Pakistan" "" "0" "" "" "" "FamA4PatC" "00453551" "" "" "00453548" "1" "" "00006" "{PMID:Malka 2024:39191256}" "relative" "M" "yes" "Pakistan" "" "0" "" "" "" "FamA4PatD" "00453552" "" "" "" "7" "" "00006" "{PMID:Malka 2024:39191256}" "6-generation family,7 affected (F, 6M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamA5PatA" "00453553" "" "" "00453552" "1" "" "00006" "{PMID:Malka 2024:39191256}" "relative" "M" "yes" "Pakistan" "" "0" "" "" "" "FamA5PatB" "00453554" "" "" "00453552" "1" "" "00006" "{PMID:Malka 2024:39191256}" "relative" "M" "yes" "Pakistan" "" "0" "" "" "" "FamA5PatC" "00453555" "" "" "00453552" "1" "" "00006" "{PMID:Malka 2024:39191256}" "relative" "M" "yes" "Pakistan" "" "0" "" "" "" "FamA5PatD" "00453556" "" "" "00453552" "1" "" "00006" "{PMID:Malka 2024:39191256}" "relative" "F" "yes" "Pakistan" "" "0" "" "" "" "FamA5PatE" "00453557" "" "" "" "4" "" "00006" "{PMID:Malka 2024:39191256}" "4-generation family, 4 affected (4M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamA6Pat" "00453558" "" "" "" "11" "" "00006" "{PMID:Malka 2024:39191256}" "3-generation family, 11 affected (5F, 6M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamA7Pat" "00453559" "" "" "" "3" "" "00006" "{PMID:Malka 2024:39191256}" "4-generation family, 3 affected (2F, M), unaffected parents" "F" "yes" "Pakistan" "" "0" "" "" "" "FamA8Pat" "00453560" "" "" "" "3" "" "00006" "{PMID:Malka 2024:39191256}" "4-generation family, 3 affected (F, 2M), unaffected parents" "M" "yes" "Pakistan" "" "0" "" "" "" "FamA9Pat" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 184 "{{individualid}}" "{{diseaseid}}" "00204378" "05109" "00204379" "05109" "00204380" "05109" "00204381" "05109" "00204382" "00958" "00204383" "00958" "00204384" "00957" "00204385" "00957" "00204386" "00957" "00204387" "00957" "00204388" "00957" "00204389" "00957" "00204390" "00957" "00204391" "00957" "00204392" "00957" "00204393" "00957" "00204394" "00957" "00204395" "00957" "00204396" "00957" "00204397" "00957" "00204398" "00957" "00204399" "00957" "00204400" "00957" "00204401" "00957" "00204402" "00957" "00204403" "00957" "00204404" "00957" "00204405" "00957" "00204406" "00957" "00204407" "00957" "00204408" "00957" "00204409" "00957" "00204410" "05109" "00204411" "05109" "00204412" "05109" "00204413" "05109" "00204414" "05109" "00204415" "05109" "00204416" "05109" "00204417" "05109" "00204418" "05109" "00204419" "05109" "00204420" "05109" "00204421" "05109" "00204422" "05109" "00204423" "05109" "00204424" "05109" "00204425" "05109" "00204426" "05109" "00204427" "05109" "00204428" "05109" "00204429" "05109" "00204430" "05109" "00204431" "05109" "00204432" "05109" "00204433" "05109" "00204434" "05109" "00204435" "05109" "00204436" "05109" "00204437" "05109" "00204438" "05109" "00204439" "05109" "00204440" "05109" "00204441" "05109" "00204442" "05109" "00204443" "05109" "00204444" "05109" "00204445" "05109" "00204446" "05109" "00204447" "05109" "00204448" "05109" "00204449" "05109" "00204450" "00958" "00204451" "00958" "00204452" "00958" "00204453" "00958" "00204454" "00958" "00204455" "00958" "00204456" "00958" "00204457" "00958" "00204458" "00958" "00204459" "00958" "00204460" "00958" "00204461" "00958" "00204462" "00958" "00204463" "00958" "00204464" "00958" "00204465" "00958" "00204466" "00958" "00204467" "00958" "00204468" "00958" "00204469" "00958" "00204470" "00958" "00204471" "00958" "00204472" "05109" "00204473" "05109" "00204474" "00958" "00204475" "00958" "00372326" "05109" "00372327" "05109" "00372328" "05109" "00372329" "05109" "00372330" "05109" "00372331" "05109" "00372332" "05109" "00372333" "05109" "00372334" "05109" "00372335" "05109" "00372336" "05109" "00372337" "05109" "00372338" "05109" "00372339" "05109" "00372340" "05109" "00372341" "05109" "00372383" "05109" "00377681" "04214" "00377682" "04214" "00380365" "04214" "00385286" "04214" "00388082" "04214" "00388084" "04214" "00395598" "00198" "00453499" "00112" "00453500" "00112" "00453501" "00112" "00453502" "00112" "00453503" "00112" "00453504" "00112" "00453505" "00112" "00453506" "00112" "00453507" "00112" "00453508" "00112" "00453509" "00112" "00453510" "00112" "00453511" "00112" "00453512" "00112" "00453513" "00112" "00453514" "00112" "00453515" "00112" "00453516" "00112" "00453517" "00112" "00453518" "00112" "00453519" "00112" "00453520" "00112" "00453521" "00112" "00453522" "00112" "00453523" "00112" "00453524" "00112" "00453525" "00112" "00453526" "00112" "00453527" "00112" "00453528" "00112" "00453529" "00112" "00453530" "00112" "00453531" "00112" "00453532" "00112" "00453533" "00112" "00453534" "00112" "00453535" "00112" "00453536" "00112" "00453537" "00112" "00453538" "00112" "00453539" "00112" "00453540" "00112" "00453541" "00112" "00453542" "00112" "00453543" "00112" "00453544" "00112" "00453545" "00112" "00453546" "00112" "00453547" "00112" "00453548" "00112" "00453549" "00112" "00453550" "00112" "00453551" "00112" "00453552" "00112" "00453553" "00112" "00453554" "00112" "00453555" "00112" "00453556" "00112" "00453557" "00112" "00453558" "00112" "00453559" "00112" "00453560" "00112" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00139, 00198, 00957, 00958, 04214, 05109 ## Count = 108 "{{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}}" "0000152839" "00957" "00204384" "00000" "Unknown" "" "dolichocephaly, frontal bossing" "" "" "" "" "" "" "" "" "" "" "" "0000152840" "00957" "00204385" "00000" "Unknown" "" "dolichocephaly, frontal bossing" "" "" "" "" "" "" "" "" "" "" "" "0000152841" "00957" "00204386" "00000" "Unknown" "" "dolichocephaly, frontal bossing, oromotor difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000152842" "00957" "00204387" "00000" "Unknown" "" "dolichocephaly, frontal bossing, oromotor difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000152843" "00957" "00204388" "00000" "Unknown" "" "dolichocephaly, frontal bossing, oromotor difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000152844" "00957" "00204389" "00000" "Unknown" "" "dolichocephaly, frontal bossing, oromotor difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000152845" "00957" "00204390" "00000" "Unknown" "" "oromotor difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000152846" "00957" "00204391" "00000" "Unknown" "" "oromotor difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000152847" "00957" "00204392" "00000" "Unknown" "" "oromotor difficulties, metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "" "" "0000152848" "00957" "00204393" "00000" "Unknown" "" "oromotor difficulties, metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "" "" "0000152849" "00957" "00204394" "00000" "Unknown" "" "oromotor difficulties, dolichocephaly, frontal bossing" "" "" "" "" "" "" "" "" "" "" "" "0000152850" "00957" "00204395" "00000" "Unknown" "" "oromotor difficulties, dolichocephaly, frontal bossing" "" "" "" "" "" "" "" "" "" "" "" "0000152851" "00957" "00204396" "00000" "Unknown" "" "hydrocephalus" "" "" "" "" "" "" "" "" "" "" "" "0000152852" "00957" "00204397" "00000" "Unknown" "" "hydrocephalus" "" "" "" "" "" "" "" "" "" "" "" "0000152853" "00957" "00204398" "00000" "Unknown" "" "oromotor difficulties, dolichocephaly, frontal bossing, hypothyroidism" "" "" "" "" "" "" "" "" "" "" "" "0000152854" "00957" "00204399" "00000" "Unknown" "" "oromotor difficulties, dolichocephaly, frontal bossing, hypothyroidism" "" "" "" "" "" "" "" "" "" "" "" "0000152855" "00957" "00204400" "00000" "Unknown" "" "epilepsy, retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000152856" "00957" "00204401" "00000" "Unknown" "" "epilepsy, retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000152857" "00957" "00204404" "00000" "Unknown" "" "short limbs, dolichocephaly, frontal bossing, oromotor difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000152858" "00957" "00204405" "00000" "Unknown" "" "short limbs, dolichocephaly, frontal bossing, oromotor difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000152859" "00958" "00204474" "02984" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000152860" "00958" "00204475" "02984" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000267647" "05109" "00372326" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267648" "05109" "00372327" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267649" "05109" "00372328" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267650" "05109" "00372329" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267651" "05109" "00372330" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267652" "05109" "00372331" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267653" "05109" "00372332" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267654" "05109" "00372333" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267655" "05109" "00372334" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267656" "05109" "00372335" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267657" "05109" "00372336" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267658" "05109" "00372337" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267659" "05109" "00372338" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267660" "05109" "00372339" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267661" "05109" "00372340" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267662" "05109" "00372341" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267704" "05109" "00372383" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272833" "04214" "00377681" "00000" "Familial, autosomal recessive" "" "liver disease, polydactyly, kidney disease, oculomotor apraxia, nystagmus, strabismus, ptosis" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272834" "04214" "00377682" "00000" "Familial, autosomal recessive" "" "polydactyly, oculomotor apraxia, nystagmus, strabismus, coloboma - retina" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000274216" "04214" "00380365" "00000" "Familial, autosomal recessive" "4y" "arterial hypertension, retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000279082" "04214" "00385286" "00000" "Familial, autosomal recessive" "4y" "obesity, retinitis pigmentosa, polydactyly, hypogenitalism, mental retardation" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000281676" "04214" "00388082" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281678" "04214" "00388084" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000288796" "00198" "00395598" "00000" "Isolated (sporadic)" "" "amblyopia, astigmatism, dyschromatopsia, early onset rod-cone dystrophy, photophobia, abnormality of the corpus callosum, ventriculomegaly, global developmental delay, intellectual disability, seizures, macrocephaly, abnormal facial shape" "" "" "" "" "" "" "" "" "Mixed" "" "" "0000342157" "00112" "00453499" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes) with unusual asymmetry; 12y-sudden loss of left eye vision; left eye squint and cataract" "4y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342158" "00112" "00453500" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); intermittent divergent squint; myopia; pre-term infant" "4y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342159" "00112" "00453501" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); cystoid macular edema; myopia" "4y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342160" "00112" "00453502" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); right eye marginal cystoid macular edema" "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342161" "00112" "00453503" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); myopia; balance problems" "3y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342162" "00112" "00453504" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes); bilateral macular edema" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342163" "00112" "00453505" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); bilateral pseudophakia; bilateral macular edema" "4y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342164" "00112" "00453506" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes); Hashimotos; thyroid problems; clotting disorder" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342165" "00112" "00453507" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342166" "00112" "00453508" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); autism" "3y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342167" "00112" "00453509" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342168" "00112" "00453510" "00006" "Familial, autosomal recessive" "" "see paper; ..., early childhood onset; retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342169" "00112" "00453511" "00006" "Familial, autosomal recessive" "" "see paper; ..., early childhood onset; retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342170" "00112" "00453512" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342171" "00112" "00453513" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342172" "00112" "00453514" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes); myopia" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342173" "00112" "00453515" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342174" "00112" "00453516" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342175" "00112" "00453517" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342176" "00112" "00453518" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342177" "00112" "00453519" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); significant early-onset obesity" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342178" "00112" "00453520" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342179" "00112" "00453521" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342180" "00112" "00453522" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "6y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342181" "00112" "00453523" "00006" "Familial, autosomal recessive" "" "see paper; ..., early childhood onset; retinitis pigmentosa (both eyes); left eye strabismus; Aspergers" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342182" "00112" "00453524" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342183" "00112" "00453525" "00006" "Familial, autosomal recessive" "" "see paper; ..., early childhood onset; retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342184" "00112" "00453526" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes); myopia" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342185" "00112" "00453527" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); right eye cystoid macular edema; high myopia; bilateral presbyopia" "19y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342186" "00112" "00453528" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "08y-09y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342187" "00112" "00453529" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); right eye amblyopia" "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342188" "00112" "00453530" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342189" "00112" "00453531" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); high myopia" "6y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342190" "00112" "00453532" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "9y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342191" "00112" "00453533" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); bilateral small posterior subcapsular cataracts" "43y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342192" "00112" "00453534" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342193" "00112" "00453535" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood (nyctalopia); retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342194" "00112" "00453536" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); macula edema" "3y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342195" "00112" "00453537" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342196" "00112" "00453538" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes); left eye Fuch’s heterochromic cyclitis" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342197" "00112" "00453539" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342198" "00112" "00453540" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342199" "00112" "00453541" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); bilateral macular hole; myopia" "3y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342200" "00112" "00453542" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); bilateral pseudophakia; myopia" "6y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342201" "00112" "00453543" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "6y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342202" "00112" "00453544" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes); right hemiplegia; epilepsy" "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342203" "00112" "00453545" "00006" "Familial, autosomal recessive" "" "see paper; ..., early childhood onset; retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342204" "00112" "00453546" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342205" "00112" "00453547" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes); bilateral early central posterior subcapsular cataract" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342206" "00112" "00453548" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "05y-08y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342207" "00112" "00453549" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "05y-08y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342208" "00112" "00453550" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "05y-08y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342209" "00112" "00453551" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "05y-08y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342210" "00112" "00453552" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "05y-10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342211" "00112" "00453553" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "05y-10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342212" "00112" "00453554" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "05y-10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342213" "00112" "00453555" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "05y-10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342214" "00112" "00453556" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "05y-10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342215" "00112" "00453557" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342216" "00112" "00453558" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood onset; retinitis pigmentosa (both eyes)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342217" "00112" "00453559" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "01y-03y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000342218" "00112" "00453560" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa (both eyes)" "05y-08y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 185 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000099" "00000099" "1" "00004" "" "2012-05-11 13:19:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000205408" "00204378" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205409" "00204379" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205410" "00204380" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205411" "00204381" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205412" "00204382" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205413" "00204383" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205414" "00204384" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205415" "00204385" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205416" "00204386" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205417" "00204387" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205418" "00204388" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205419" "00204389" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205420" "00204390" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205421" "00204391" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205422" "00204392" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205423" "00204393" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205424" "00204394" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205425" "00204395" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205426" "00204396" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205427" "00204397" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205428" "00204398" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205429" "00204399" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205430" "00204400" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205431" "00204401" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205432" "00204402" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205433" "00204403" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205434" "00204404" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205435" "00204405" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205436" "00204406" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205437" "00204407" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205438" "00204408" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205439" "00204409" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:30:18" "SEQ" "DNA" "" "" "0000205440" "00204410" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205441" "00204411" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205442" "00204412" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205443" "00204413" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205444" "00204414" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205445" "00204415" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205446" "00204416" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205447" "00204417" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205448" "00204418" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205449" "00204419" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205450" "00204420" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205451" "00204421" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205452" "00204422" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205453" "00204423" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205454" "00204424" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205455" "00204425" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205456" "00204426" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205457" "00204427" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205458" "00204428" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205459" "00204429" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205460" "00204430" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205461" "00204431" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205462" "00204432" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205463" "00204433" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205464" "00204434" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205465" "00204435" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205466" "00204436" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205467" "00204437" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205468" "00204438" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205469" "00204439" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205470" "00204440" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205471" "00204441" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205472" "00204442" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205473" "00204443" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205474" "00204444" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205475" "00204445" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205476" "00204446" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205477" "00204447" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205478" "00204448" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205479" "00204449" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205480" "00204450" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205481" "00204451" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205482" "00204452" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205483" "00204453" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205484" "00204454" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205485" "00204455" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205486" "00204456" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205487" "00204457" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205488" "00204458" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205489" "00204459" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205490" "00204460" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205491" "00204461" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205492" "00204462" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205493" "00204463" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205494" "00204464" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205495" "00204465" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205496" "00204466" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205497" "00204467" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205498" "00204468" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205499" "00204469" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205500" "00204470" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205501" "00204471" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:31:00" "MCA" "DNA" "" "" "0000205502" "00204472" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205503" "00204473" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:28:57" "MCA" "DNA" "" "" "0000205504" "00204474" "1" "02984" "00015" "2012-11-12 16:01:55" "00015" "2012-11-30 09:55:01" "SEQ" "DNA" "" "" "0000205505" "00204475" "1" "02984" "00015" "2012-11-12 15:42:23" "00015" "2012-11-30 09:53:51" "MCA" "DNA" "" "" "0000373555" "00372326" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373556" "00372327" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373557" "00372328" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373558" "00372329" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373559" "00372330" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373560" "00372331" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373561" "00372332" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373562" "00372333" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373563" "00372334" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373564" "00372335" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373565" "00372336" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373566" "00372337" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373567" "00372338" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373568" "00372339" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373569" "00372340" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373570" "00372341" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373612" "00372383" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000378885" "00377681" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378886" "00377682" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000381579" "00380365" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000386515" "00385286" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000389321" "00388082" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389323" "00388084" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000396836" "00395598" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "whole exome sequencing" "0000455113" "00453499" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455114" "00453500" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455115" "00453501" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455116" "00453502" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455117" "00453503" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455118" "00453504" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455119" "00453505" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455120" "00453506" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455121" "00453507" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455122" "00453508" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455123" "00453509" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455124" "00453510" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455125" "00453511" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455126" "00453512" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455127" "00453513" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455128" "00453514" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455129" "00453515" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455130" "00453516" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455131" "00453517" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455132" "00453518" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455133" "00453519" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455134" "00453520" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455135" "00453521" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455136" "00453522" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455137" "00453523" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455138" "00453524" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455139" "00453525" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455140" "00453526" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455141" "00453527" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455142" "00453528" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455143" "00453529" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455144" "00453530" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455145" "00453531" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455146" "00453532" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455147" "00453533" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455148" "00453534" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455149" "00453535" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455150" "00453536" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455151" "00453537" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455152" "00453538" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455153" "00453539" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455154" "00453540" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455155" "00453541" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455156" "00453542" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455157" "00453543" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455158" "00453544" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455159" "00453545" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455160" "00453546" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455161" "00453547" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455162" "00453548" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455163" "00453549" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455164" "00453550" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455165" "00453551" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455166" "00453552" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455167" "00453553" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455168" "00453554" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455169" "00453555" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455170" "00453556" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455171" "00453557" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455172" "00453558" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455173" "00453559" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" "0000455174" "00453560" "1" "00006" "00006" "2024-09-10 16:29:10" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 194 "{{screeningid}}" "{{geneid}}" "0000000099" "ARSB" "0000000099" "ATP7B" "0000000099" "ETFB" "0000000099" "HESX1" "0000000099" "HGSNAT" "0000000099" "LAMA2" "0000000099" "NHLRC1" "0000000099" "SERPINA1" "0000000099" "SLC26A2" "0000000099" "TMEM216" "0000205408" "TMEM216" "0000205409" "TMEM216" "0000205410" "TMEM216" "0000205411" "TMEM216" "0000205412" "TMEM216" "0000205413" "TMEM216" "0000205414" "TMEM216" "0000205415" "TMEM216" "0000205416" "TMEM216" "0000205417" "TMEM216" "0000205418" "TMEM216" "0000205419" "TMEM216" "0000205420" "TMEM216" "0000205421" "TMEM216" "0000205422" "TMEM216" "0000205423" "TMEM216" "0000205424" "TMEM216" "0000205425" "TMEM216" "0000205426" "TMEM216" "0000205427" "TMEM216" "0000205428" "TMEM216" "0000205429" "TMEM216" "0000205430" "TMEM216" "0000205431" "TMEM216" "0000205432" "TMEM216" "0000205433" "TMEM216" "0000205434" "TMEM216" "0000205435" "TMEM216" "0000205436" "TMEM216" "0000205437" "TMEM216" "0000205438" "TMEM216" "0000205439" "TMEM216" "0000205440" "TMEM216" "0000205441" "TMEM216" "0000205442" "TMEM216" "0000205443" "TMEM216" "0000205444" "TMEM216" "0000205445" "TMEM216" "0000205446" "TMEM216" "0000205447" "TMEM216" "0000205448" "TMEM216" "0000205449" "TMEM216" "0000205450" "TMEM216" "0000205451" "TMEM216" "0000205452" "TMEM216" "0000205453" "TMEM216" "0000205454" "TMEM216" "0000205455" "TMEM216" "0000205456" "TMEM216" "0000205457" "TMEM216" "0000205458" "TMEM216" "0000205459" "TMEM216" "0000205460" "TMEM216" "0000205461" "TMEM216" "0000205462" "TMEM216" "0000205463" "TMEM216" "0000205464" "TMEM216" "0000205465" "TMEM216" "0000205466" "TMEM216" "0000205467" "TMEM216" "0000205468" "TMEM216" "0000205469" "TMEM216" "0000205470" "TMEM216" "0000205471" "TMEM216" "0000205472" "TMEM216" "0000205473" "TMEM216" "0000205474" "TMEM216" "0000205475" "TMEM216" "0000205476" "TMEM216" "0000205477" "TMEM216" "0000205478" "TMEM216" "0000205479" "TMEM216" "0000205480" "TMEM216" "0000205481" "TMEM216" "0000205482" "TMEM216" "0000205483" "TMEM216" "0000205484" "TMEM216" "0000205485" "TMEM216" "0000205486" "TMEM216" "0000205487" "TMEM216" "0000205488" "TMEM216" "0000205489" "TMEM216" "0000205490" "TMEM216" "0000205491" "TMEM216" "0000205492" "TMEM216" "0000205493" "TMEM216" "0000205494" "TMEM216" "0000205495" "TMEM216" "0000205496" "TMEM216" "0000205497" "TMEM216" "0000205498" "TMEM216" "0000205499" "TMEM216" "0000205500" "TMEM216" "0000205501" "TMEM216" "0000205502" "TMEM216" "0000205503" "TMEM216" "0000205504" "TMEM216" "0000205505" "TMEM216" "0000373555" "TMEM216" "0000373556" "TMEM216" "0000373557" "TMEM216" "0000373558" "TMEM216" "0000373559" "TMEM216" "0000373560" "TMEM216" "0000373561" "TMEM216" "0000373562" "TMEM216" "0000373563" "TMEM216" "0000373564" "TMEM216" "0000373565" "TMEM216" "0000373566" "TMEM216" "0000373567" "TMEM216" "0000373568" "TMEM216" "0000373569" "TMEM216" "0000373570" "TMEM216" "0000373612" "TMEM216" "0000378885" "TMEM216" "0000378886" "TMEM216" "0000381579" "TMEM216" "0000386515" "TTC8" "0000389321" "TMEM216" "0000389323" "TMEM216" "0000396836" "TMEM216" "0000455113" "TMEM216" "0000455114" "TMEM216" "0000455115" "TMEM216" "0000455116" "TMEM216" "0000455117" "TMEM216" "0000455118" "TMEM216" "0000455119" "TMEM216" "0000455120" "TMEM216" "0000455121" "TMEM216" "0000455122" "TMEM216" "0000455123" "TMEM216" "0000455124" "TMEM216" "0000455125" "TMEM216" "0000455126" "TMEM216" "0000455127" "TMEM216" "0000455128" "TMEM216" "0000455129" "TMEM216" "0000455130" "TMEM216" "0000455131" "TMEM216" "0000455132" "TMEM216" "0000455133" "TMEM216" "0000455134" "TMEM216" "0000455135" "TMEM216" "0000455136" "TMEM216" "0000455137" "TMEM216" "0000455138" "TMEM216" "0000455139" "TMEM216" "0000455140" "TMEM216" "0000455141" "TMEM216" "0000455142" "TMEM216" "0000455143" "TMEM216" "0000455144" "TMEM216" "0000455145" "TMEM216" "0000455146" "TMEM216" "0000455147" "TMEM216" "0000455148" "TMEM216" "0000455149" "TMEM216" "0000455150" "TMEM216" "0000455151" "TMEM216" "0000455152" "TMEM216" "0000455153" "TMEM216" "0000455154" "TMEM216" "0000455155" "TMEM216" "0000455156" "TMEM216" "0000455157" "TMEM216" "0000455158" "TMEM216" "0000455159" "TMEM216" "0000455160" "TMEM216" "0000455161" "TMEM216" "0000455162" "TMEM216" "0000455163" "TMEM216" "0000455164" "TMEM216" "0000455165" "TMEM216" "0000455166" "TMEM216" "0000455167" "TMEM216" "0000455168" "TMEM216" "0000455169" "TMEM216" "0000455170" "TMEM216" "0000455171" "TMEM216" "0000455172" "TMEM216" "0000455173" "TMEM216" "0000455174" "TMEM216" ## 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 = 211 "{{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}}" "0000311872" "0" "10" "11" "61165280" "61165280" "subst" "0.871143" "02325" "TMEM216_000014" "g.61165280G>A" "" "" "" "TMEM216(NM_001173991.2):c.264G>A (p.P88=), TMEM216(NM_001173991.3):c.264G>A (p.P88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61397808G>A" "" "benign" "" "0000311873" "0" "10" "11" "61165731" "61165732" "ins" "0.869254" "02325" "TMEM216_000015" "g.61165731_61165732insA" "" "" "" "TMEM216(NM_001173991.2):c.432-3_432-2insA, TMEM216(NM_001173991.3):c.431-1_431insA, TMEM216(NM_001173991.3):c.431delGinsAG (p.S144Kfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61398259_61398260insA" "" "benign" "" "0000311874" "0" "10" "11" "61165741" "61165741" "subst" "0.83031" "02325" "TMEM216_000016" "g.61165741G>C" "" "" "" "TMEM216(NM_001173990.3):c.432-1G>C, TMEM216(NM_001173991.2):c.440G>C (p.R147T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61398269G>C" "" "benign" "" "0000316680" "0" "30" "11" "61165269" "61165269" "subst" "0.0026647" "01943" "TMEM216_000013" "g.61165269C>A" "" "" "" "TMEM216(NM_001173991.2):c.253C>A (p.R85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61397797C>A" "" "likely benign" "" "0000316681" "0" "10" "11" "61165280" "61165280" "subst" "0.871143" "01943" "TMEM216_000014" "g.61165280G>A" "" "" "" "TMEM216(NM_001173991.2):c.264G>A (p.P88=), TMEM216(NM_001173991.3):c.264G>A (p.P88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61397808G>A" "" "benign" "" "0000316682" "0" "10" "11" "61160686" "61160686" "subst" "0.00789999" "01943" "TMEM216_000011" "g.61160686C>T" "" "" "" "TMEM216(NM_001173990.3):c.35-17C>T, TMEM216(NM_001173991.2):c.35-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61393214C>T" "" "benign" "" "0000316683" "0" "10" "11" "61165741" "61165741" "subst" "0.83031" "01943" "TMEM216_000016" "g.61165741G>C" "" "" "" "TMEM216(NM_001173990.3):c.432-1G>C, TMEM216(NM_001173991.2):c.440G>C (p.R147T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61398269G>C" "" "benign" "" "0000434793" "10" "90" "11" "61161436" "61161436" "subst" "1.21838E-5" "00000" "TMEM216_000003" "g.61161436C>T" "" "{PMID:Valente 2010:20512146}" "" "C217T, R73C" "" "Unknown" "" "" "0" "" "" "g.61393964C>T" "" "pathogenic" "" "0000434794" "20" "90" "11" "61161436" "61161436" "subst" "1.21838E-5" "00000" "TMEM216_000003" "g.61161436C>T" "" "{PMID:Valente 2010:20512146}" "" "C217T, R73C" "" "Unknown" "" "" "0" "" "" "g.61393964C>T" "" "pathogenic" "" "0000434795" "10" "90" "11" "61161437" "61161437" "subst" "8.12269E-6" "00000" "TMEM216_000002" "g.61161437G>A" "" "{PMID:Valente 2010:20512146}" "" "G218A, R73H" "" "Unknown" "" "" "0" "" "" "g.61393965G>A" "" "pathogenic" "" "0000434796" "20" "90" "11" "61161437" "61161437" "subst" "8.12269E-6" "00000" "TMEM216_000002" "g.61161437G>A" "" "{PMID:Valente 2010:20512146}" "" "G218A, R73H" "" "Unknown" "" "" "0" "" "" "g.61393965G>A" "" "pathogenic" "" "0000434797" "10" "90" "11" "61161437" "61161437" "subst" "8.12269E-6" "00000" "TMEM216_000002" "g.61161437G>A" "" "{PMID:Valente 2010:20512146}" "" "G218A, R73H" "" "Unknown" "" "" "0" "" "" "g.61393965G>A" "" "pathogenic" "" "0000434798" "20" "90" "11" "61161437" "61161437" "subst" "8.12269E-6" "00000" "TMEM216_000002" "g.61161437G>A" "" "{PMID:Valente 2010:20512146}" "" "G218A, R73H" "" "Unknown" "" "" "0" "" "" "g.61393965G>A" "" "pathogenic" "" "0000434799" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434800" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434801" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434802" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434803" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434804" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434805" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434806" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434807" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434808" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434809" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434810" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434811" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434812" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434813" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434814" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434815" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434816" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434817" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434818" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434819" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434820" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434821" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434822" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434823" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434824" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Edvardson 2010:20036350}" "" "c.35G>T, R12L" "heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434825" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434826" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434827" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434828" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434829" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434830" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434831" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434832" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434833" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434834" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434835" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434836" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434837" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434838" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434839" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434840" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434841" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434842" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434843" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434844" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434845" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434846" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434847" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434848" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434849" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434850" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434851" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434852" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434853" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434854" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434855" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434856" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434857" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434858" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434859" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434860" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434861" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434862" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434863" "10" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434864" "20" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Valente 2010:20512146}" "" "G218T, R73L" "Founder Mutation" "Unknown" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000434865" "10" "90" "11" "61165246" "61165246" "subst" "0" "00000" "TMEM216_000006" "g.61165246G>C" "" "{PMID:Valente 2010:20512146}" "" "G230C G77Asplice: T78KfsX30" "" "Unknown" "" "" "0" "" "" "g.61397774G>C" "" "pathogenic" "" "0000434866" "20" "90" "11" "61165246" "61165246" "subst" "0" "00000" "TMEM216_000006" "g.61165246G>C" "" "{PMID:Valente 2010:20512146}" "" "G230C G77Asplice: T78KfsX30" "" "Unknown" "" "" "0" "" "" "g.61397774G>C" "" "pathogenic" "" "0000434867" "10" "90" "11" "61165246" "61165246" "subst" "0" "00000" "TMEM216_000006" "g.61165246G>C" "" "{PMID:Valente 2010:20512146}" "" "G230C G77Asplice: T78KfsX30" "" "Unknown" "" "" "0" "" "" "g.61397774G>C" "" "pathogenic" "" "0000434868" "20" "90" "11" "61165246" "61165246" "subst" "0" "00000" "TMEM216_000006" "g.61165246G>C" "" "{PMID:Valente 2010:20512146}" "" "G230C G77Asplice: T78KfsX30" "" "Unknown" "" "" "0" "" "" "g.61397774G>C" "" "pathogenic" "" "0000434869" "10" "90" "11" "61165246" "61165246" "subst" "0" "00000" "TMEM216_000006" "g.61165246G>C" "" "{PMID:Valente 2010:20512146}" "" "G230C G77Asplice: T78KfsX30" "" "Unknown" "" "" "0" "" "" "g.61397774G>C" "" "pathogenic" "" "0000434870" "20" "90" "11" "61165246" "61165246" "subst" "0" "00000" "TMEM216_000006" "g.61165246G>C" "" "{PMID:Valente 2010:20512146}" "" "G230C G77Asplice: T78KfsX30" "" "Unknown" "" "" "0" "" "" "g.61397774G>C" "" "pathogenic" "" "0000434871" "10" "90" "11" "61165246" "61165246" "subst" "0" "00000" "TMEM216_000006" "g.61165246G>C" "" "{PMID:Valente 2010:20512146}" "" "G230C G77Asplice: T78KfsX30" "" "Unknown" "" "" "0" "" "" "g.61397774G>C" "" "pathogenic" "" "0000434872" "20" "90" "11" "61165246" "61165246" "subst" "0" "00000" "TMEM216_000006" "g.61165246G>C" "" "{PMID:Valente 2010:20512146}" "" "G230C G77Asplice: T78KfsX30" "" "Unknown" "" "" "0" "" "" "g.61397774G>C" "" "pathogenic" "" "0000434873" "10" "90" "11" "61165246" "61165246" "subst" "0" "00000" "TMEM216_000006" "g.61165246G>C" "" "{PMID:Valente 2010:20512146}" "" "G230C G77Asplice: T78KfsX30" "" "Unknown" "" "" "0" "" "" "g.61397774G>C" "" "pathogenic" "" "0000434874" "20" "90" "11" "61165246" "61165246" "subst" "0" "00000" "TMEM216_000006" "g.61165246G>C" "" "{PMID:Valente 2010:20512146}" "" "G230C G77Asplice: T78KfsX30" "" "Unknown" "" "" "0" "" "" "g.61397774G>C" "" "pathogenic" "" "0000434875" "10" "90" "11" "61165246" "61165246" "subst" "0" "00000" "TMEM216_000006" "g.61165246G>C" "" "{PMID:Valente 2010:20512146}" "" "G230C G77Asplice: T78KfsX30" "" "Unknown" "" "" "0" "" "" "g.61397774G>C" "" "pathogenic" "" "0000434876" "20" "90" "11" "61165246" "61165246" "subst" "0" "00000" "TMEM216_000006" "g.61165246G>C" "" "{PMID:Valente 2010:20512146}" "" "G230C G77Asplice: T78KfsX30" "" "Unknown" "" "" "0" "" "" "g.61397774G>C" "" "pathogenic" "" "0000434877" "10" "90" "11" "61165269" "61165269" "subst" "8.1365E-5" "00000" "TMEM216_000007" "g.61165269C>T" "" "{PMID:Valente 2010:20512146}" "" "C253T, R85X" "" "Unknown" "" "" "0" "" "" "g.61397797C>T" "" "pathogenic" "" "0000434878" "20" "90" "11" "61165269" "61165269" "subst" "8.1365E-5" "00000" "TMEM216_000007" "g.61165269C>T" "" "{PMID:Valente 2010:20512146}" "" "C253T, R85X" "" "Unknown" "" "" "0" "" "" "g.61397797C>T" "" "pathogenic" "" "0000434879" "10" "90" "11" "61165269" "61165269" "subst" "8.1365E-5" "00000" "TMEM216_000007" "g.61165269C>T" "" "{PMID:Valente 2010:20512146}" "" "C253T, R85X" "" "Unknown" "" "" "0" "" "" "g.61397797C>T" "" "pathogenic" "" "0000434880" "20" "90" "11" "61165269" "61165269" "subst" "8.1365E-5" "00000" "TMEM216_000007" "g.61165269C>T" "" "{PMID:Valente 2010:20512146}" "" "C253T, R85X" "" "Unknown" "" "" "0" "" "" "g.61397797C>T" "" "pathogenic" "" "0000434881" "10" "90" "11" "61165357" "61165357" "subst" "0" "00000" "TMEM216_000005" "g.61165357T>G" "" "{PMID:Valente 2010:20512146}" "" "T341G, L114R" "" "Unknown" "" "" "0" "" "" "g.61397885T>G" "" "pathogenic" "" "0000434882" "20" "90" "11" "61165357" "61165357" "subst" "0" "00000" "TMEM216_000005" "g.61165357T>G" "" "{PMID:Valente 2010:20512146}" "" "T341G, L114R" "" "Unknown" "" "" "0" "" "" "g.61397885T>G" "" "pathogenic" "" "0000434883" "10" "90" "11" "61165357" "61165357" "subst" "0" "00000" "TMEM216_000005" "g.61165357T>G" "" "{PMID:Valente 2010:20512146}" "" "T341G, L114R" "" "Unknown" "" "" "0" "" "" "g.61397885T>G" "" "pathogenic" "" "0000434884" "20" "90" "11" "61165357" "61165357" "subst" "0" "00000" "TMEM216_000005" "g.61165357T>G" "" "{PMID:Valente 2010:20512146}" "" "T341G, L114R" "" "Unknown" "" "" "0" "" "" "g.61397885T>G" "" "pathogenic" "" "0000434885" "10" "90" "11" "61165357" "61165357" "subst" "0" "00000" "TMEM216_000005" "g.61165357T>G" "" "{PMID:Valente 2010:20512146}" "" "T341G, L114R" "" "Unknown" "" "" "0" "" "" "g.61397885T>G" "" "pathogenic" "" "0000434886" "20" "90" "11" "61165357" "61165357" "subst" "0" "00000" "TMEM216_000005" "g.61165357T>G" "" "{PMID:Valente 2010:20512146}" "" "T341G, L114R" "" "Unknown" "" "" "0" "" "" "g.61397885T>G" "" "pathogenic" "" "0000434887" "10" "90" "11" "61165414" "61165414" "subst" "8.12361E-6" "00000" "TMEM216_000004" "g.61165414T>G" "" "{PMID:Valente 2010:20512146}" "" "T398G, L133X" "" "Unknown" "" "" "0" "" "" "g.61397942T>G" "" "pathogenic" "" "0000434888" "20" "90" "11" "61165414" "61165414" "subst" "8.12361E-6" "00000" "TMEM216_000004" "g.61165414T>G" "" "{PMID:Valente 2010:20512146}" "" "T398G, L133X" "" "Unknown" "" "" "0" "" "" "g.61397942T>G" "" "pathogenic" "" "0000434889" "0" "97" "11" "61165246" "61165246" "subst" "0" "02984" "TMEM216_000008" "g.61165246G>C" "0/500 CON" "{PMID:Valente 2010:20512146}" "" "G230C G77Asplice: T78KfsX30" "" "Germline" "" "" "0" "" "" "g.61397774G>C" "" "pathogenic" "" "0000434890" "0" "97" "11" "61165269" "61165269" "subst" "8.1365E-5" "02984" "TMEM216_000007" "g.61165269C>T" "0/496 CON" "{PMID:Valente 2010:20512146}" "" "C253T, R85X" "" "Germline" "" "" "0" "" "" "g.61397797C>T" "" "pathogenic" "" "0000434891" "0" "97" "11" "61165357" "61165357" "subst" "0" "02984" "TMEM216_000005" "g.61165357T>G" "0/766 CON" "{PMID:Valente 2010:20512146}" "" "T341G, L114R" "Mutation leads to unstable protein product." "Germline" "" "" "0" "" "" "g.61397885T>G" "" "pathogenic" "" "0000544682" "0" "30" "11" "61160108" "61160108" "subst" "0.00144119" "01804" "TMEM216_000017" "g.61160108T>C" "" "" "" "TMEM216(NM_001173990.2):c.5T>C (p.(Leu2Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61392636T>C" "" "likely benign" "" "0000544683" "0" "10" "11" "61165731" "61165732" "ins" "0.869254" "01943" "TMEM216_000015" "g.61165731_61165732insA" "" "" "" "TMEM216(NM_001173991.2):c.432-3_432-2insA, TMEM216(NM_001173991.3):c.431-1_431insA, TMEM216(NM_001173991.3):c.431delGinsAG (p.S144Kfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61398259_61398260insA" "" "benign" "" "0000691099" "0" "90" "11" "61160701" "61160701" "subst" "0" "01943" "TMEM216_000012" "g.61160701A>G" "" "" "" "TMEM216(NM_001173991.2):c.35-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723512" "0" "30" "11" "61161359" "61161359" "subst" "0.000568238" "01804" "TMEM216_000018" "g.61161359T>C" "" "" "" "TMEM216(NM_001173990.2):c.140T>C (p.(Val47Ala)), TMEM216(NM_001173990.3):c.140T>C (p.V47A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000783535" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783536" "1" "90" "11" "61165414" "61165414" "subst" "8.12361E-6" "00000" "TMEM216_000004" "g.61165414T>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.398T>G" "" "Germline" "" "" "0" "" "" "g.61397942T>G" "" "pathogenic" "" "0000783537" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783538" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783539" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783540" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783541" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783542" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783543" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783544" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783545" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783546" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783547" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783548" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783549" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000783550" "1" "90" "11" "61165269" "61165269" "subst" "8.1365E-5" "00000" "TMEM216_000007" "g.61165269C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.253C>T" "" "Germline" "" "" "0" "" "" "g.61397797C>T" "" "pathogenic" "" "0000783592" "3" "70" "11" "61161435" "61161435" "subst" "0.000629503" "00000" "TMEM216_000019" "g.61161435T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.216T>C" "" "Germline" "" "" "0" "" "" "g.61393963T>C" "" "likely pathogenic" "" "0000783724" "2" "90" "11" "61161436" "61161436" "subst" "1.21838E-5" "00000" "TMEM216_000003" "g.61161436C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.217C>T" "" "Germline" "" "" "0" "" "" "g.61393964C>T" "" "pathogenic" "" "0000783725" "2" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001173990.2:c.218G>T" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000791791" "0" "70" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Brooks 2018:30055837}" "" "c.218G>T; p.R73L" "different transcript: NM_001173991.2(TMEM216):c.218G>T" "Germline" "?" "" "0" "" "" "g.61393965G>T" "" "likely pathogenic" "" "0000791792" "3" "70" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Brooks 2018:30055837}" "" "c.218G>T; p.R73L" "different transcript: NM_001173991.2(TMEM216):c.218G>T" "Germline" "?" "" "0" "" "" "g.61393965G>T" "" "likely pathogenic" "" "0000791873" "0" "70" "11" "61165269" "61165269" "subst" "8.1365E-5" "00000" "TMEM216_000007" "g.61165269C>T" "" "{PMID:Brooks 2018:30055837}" "" "c.253C>T; p.R85*" "different transcript: NM_001173990.3(TMEM216):c.253C>T" "Germline" "?" "" "0" "" "" "g.61397797C>T" "" "likely pathogenic" "" "0000795055" "0" "90" "11" "61166306" "61166306" "subst" "0" "00000" "TMEM216_000020" "g.61166306G>A" "" "{PMID:M\'hamdi 2014:23432027}" "" "c.*558G >A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000805210" "0" "50" "11" "61165270" "61165270" "subst" "2.44035E-5" "01943" "CPSF7_000001" "g.61165270G>A" "" "" "" "TMEM216(NM_001330285.1):c.71G>A (p.R24Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814077" "0" "50" "11" "61166306" "61166306" "subst" "0" "00000" "TMEM216_000020" "g.61166306G>A" "" "{PMID:M\'hamdi-2014:23432027}" "" "TMEM216: c.*558G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000818279" "0" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Summers 2017:28497568}" "" "" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000818280" "0" "90" "11" "61165269" "61165269" "subst" "8.1365E-5" "00000" "TMEM216_000007" "g.61165269C>T" "" "{PMID:Summers 2017:28497568}" "" "" "" "Germline" "" "" "0" "" "" "g.61397797C>T" "" "pathogenic" "" "0000818283" "3" "90" "11" "61161437" "61161437" "subst" "0.000170576" "00000" "TMEM216_000001" "g.61161437G>T" "" "{PMID:Summers 2017:28497568}" "" "" "" "Germline" "" "" "0" "" "" "g.61393965G>T" "" "pathogenic" "" "0000828528" "0" "50" "11" "61165305" "61165305" "subst" "0.000471047" "00000" "TMEM216_000023" "g.61165305T>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "TMEM216, c.289T>A, p.Phe97Ile, heterozygous" "different transcript: ENM_001173991.2(TMEM216):c.289T>A, p.Phe97Ile, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.61397833T>A" "" "VUS" "ACMG" "0000853048" "0" "10" "11" "61160686" "61160686" "subst" "0.00789999" "02330" "TMEM216_000011" "g.61160686C>T" "" "" "" "TMEM216(NM_001173990.3):c.35-17C>T, TMEM216(NM_001173991.2):c.35-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853049" "0" "50" "11" "61161430" "61161430" "subst" "0.000536075" "01943" "TMEM216_000024" "g.61161430G>T" "" "" "" "TMEM216(NM_001173990.3):c.211G>T (p.V71L), TMEM216(NM_001330285.1):c.28G>T (p.V10L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889996" "0" "30" "11" "61161359" "61161359" "subst" "0.000568238" "02326" "TMEM216_000018" "g.61161359T>C" "" "" "" "TMEM216(NM_001173990.2):c.140T>C (p.(Val47Ala)), TMEM216(NM_001173990.3):c.140T>C (p.V47A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889997" "0" "30" "11" "61161430" "61161430" "subst" "0.000536075" "02326" "TMEM216_000024" "g.61161430G>T" "" "" "" "TMEM216(NM_001173990.3):c.211G>T (p.V71L), TMEM216(NM_001330285.1):c.28G>T (p.V10L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979680" "0" "90" "11" "61165269" "61165269" "subst" "8.1365E-5" "01804" "TMEM216_000007" "g.61165269C>T" "" "" "" "TMEM216(NM_001173990.3):c.253C>T (p.(Arg85Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001007128" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007129" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007130" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007131" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007132" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007133" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007134" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007135" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007136" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007137" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007138" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007139" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007140" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007141" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007142" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007143" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007144" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007145" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007146" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007147" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007148" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007149" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007150" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007151" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007152" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007153" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007154" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007155" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007156" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007157" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007158" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007159" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007160" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007161" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007162" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007163" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007164" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007165" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007166" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007167" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007168" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007169" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007170" "1" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007171" "1" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007172" "1" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>T" "" "pathogenic (recessive)" "" "0001007173" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007174" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007175" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007176" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007177" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007178" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007179" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007180" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007181" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007182" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007183" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007184" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007185" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007186" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007187" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007188" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007189" "3" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "variant has reduced promotor activity" "Germline" "" "" "0" "" "" "g.61392563G>A" "" "pathogenic (recessive)" "" "0001007190" "2" "90" "11" "61160701" "61160701" "subst" "0" "00006" "TMEM216_000012" "g.61160701A>G" "" "{PMID:Malka 2024:39191256}" "" "" "" "Germline" "" "" "0" "" "" "g.61393229A>G" "" "pathogenic (recessive)" "" "0001007191" "2" "90" "11" "61150363" "61161447" "del" "0" "00006" "TMEM216_000027" "g.61150363_61161447del" "" "{PMID:Malka 2024:39191256}" "" "c.-9741_228del, hg38 g.61,382,891-61,393,975del" "" "Germline" "" "" "0" "" "" "g.61382891_61393975del" "" "pathogenic (recessive)" "" "0001007192" "2" "90" "11" "61150363" "61161447" "del" "0" "00006" "TMEM216_000027" "g.61150363_61161447del" "" "{PMID:Malka 2024:39191256}" "" "c.-9741_228del, hg38 g.61,382,891-61,393,975del" "" "Germline" "" "" "0" "" "" "g.61382891_61393975del" "" "pathogenic (recessive)" "" "0001007193" "0" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000025" "g.61160035G>A" "" "{PMID:Malka 2024:39191256}" "" "" "luciferase reporter gene assay shows reduced promotor activity" "In vitro (cloned)" "" "" "0" "" "" "g.61392563G>A" "" "NA" "" "0001007194" "0" "90" "11" "61160035" "61160035" "subst" "0" "00006" "TMEM216_000026" "g.61160035G>T" "" "{PMID:Malka 2024:39191256}" "" "" "luciferase reporter gene assay showed reduced promotor activity" "In vitro (cloned)" "" "" "0" "" "" "g.61392563G>T" "" "NA" "" ## 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 TMEM216 ## Count = 211 "{{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}}" "0000311872" "00025629" "10" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Pro88=)" "" "0000311873" "00025629" "10" "432" "-11" "432" "-10" "c.432-11_432-10insA" "r.(=)" "p.(=)" "" "0000311874" "00025629" "10" "432" "-1" "432" "-1" "c.432-1G>C" "r.spl?" "p.?" "" "0000316680" "00025629" "30" "253" "0" "253" "0" "c.253C>A" "r.(?)" "p.(Arg85=)" "" "0000316681" "00025629" "10" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Pro88=)" "" "0000316682" "00025629" "10" "35" "-17" "35" "-17" "c.35-17C>T" "r.(=)" "p.(=)" "" "0000316683" "00025629" "10" "432" "-1" "432" "-1" "c.432-1G>C" "r.spl?" "p.?" "" "0000434793" "00025629" "90" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Arg73Cys)" "" "0000434794" "00025629" "90" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Arg73Cys)" "" "0000434795" "00025629" "90" "218" "0" "218" "0" "c.218G>A" "r.(?)" "p.(Arg73His)" "" "0000434796" "00025629" "90" "218" "0" "218" "0" "c.218G>A" "r.(?)" "p.(Arg73His)" "" "0000434797" "00025629" "90" "218" "0" "218" "0" "c.218G>A" "r.(?)" "p.(Arg73His)" "" "0000434798" "00025629" "90" "218" "0" "218" "0" "c.218G>A" "r.(?)" "p.(Arg73His)" "" "0000434799" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434800" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434801" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434802" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434803" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434804" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434805" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434806" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434807" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434808" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434809" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434810" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434811" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434812" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434813" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434814" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434815" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434816" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434817" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434818" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434819" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434820" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434821" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434822" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434823" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434824" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434825" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434826" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434827" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434828" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434829" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434830" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434831" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434832" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434833" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434834" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434835" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434836" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434837" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434838" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434839" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434840" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434841" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434842" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434843" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434844" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434845" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434846" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434847" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434848" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434849" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434850" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434851" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434852" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434853" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434854" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434855" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434856" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434857" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434858" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434859" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434860" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434861" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434862" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434863" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434864" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000434865" "00025629" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Gly77Ala)" "" "0000434866" "00025629" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Gly77Ala)" "" "0000434867" "00025629" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Gly77Ala)" "" "0000434868" "00025629" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Gly77Ala)" "" "0000434869" "00025629" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Gly77Ala)" "" "0000434870" "00025629" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Gly77Ala)" "" "0000434871" "00025629" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Gly77Ala)" "" "0000434872" "00025629" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Gly77Ala)" "" "0000434873" "00025629" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Gly77Ala)" "" "0000434874" "00025629" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Gly77Ala)" "" "0000434875" "00025629" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Gly77Ala)" "" "0000434876" "00025629" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Gly77Ala)" "" "0000434877" "00025629" "90" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Ter)" "" "0000434878" "00025629" "90" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Ter)" "" "0000434879" "00025629" "90" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Ter)" "" "0000434880" "00025629" "90" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Ter)" "" "0000434881" "00025629" "90" "341" "0" "341" "0" "c.341T>G" "r.(?)" "p.(Leu114Arg)" "" "0000434882" "00025629" "90" "341" "0" "341" "0" "c.341T>G" "r.(?)" "p.(Leu114Arg)" "" "0000434883" "00025629" "90" "341" "0" "341" "0" "c.341T>G" "r.(?)" "p.(Leu114Arg)" "" "0000434884" "00025629" "90" "341" "0" "341" "0" "c.341T>G" "r.(?)" "p.(Leu114Arg)" "" "0000434885" "00025629" "90" "341" "0" "341" "0" "c.341T>G" "r.(?)" "p.(Leu114Arg)" "" "0000434886" "00025629" "90" "341" "0" "341" "0" "c.341T>G" "r.(?)" "p.(Leu114Arg)" "" "0000434887" "00025629" "90" "398" "0" "398" "0" "c.398T>G" "r.(?)" "p.(Leu133Ter)" "" "0000434888" "00025629" "90" "398" "0" "398" "0" "c.398T>G" "r.(?)" "p.(Leu133Ter)" "" "0000434889" "00025629" "97" "230" "0" "230" "0" "c.230G>C" "r.229_230ins230-46_230-1" "p.?" "" "0000434890" "00025629" "97" "253" "0" "253" "0" "c.253C>T" "r.(253c>u)" "p.(Arg85Ter)" "" "0000434891" "00025629" "97" "341" "0" "341" "0" "c.341T>G" "r.(341u>g)" "p.(Leu114Arg)" "" "0000544682" "00025629" "30" "5" "0" "5" "0" "c.5T>C" "r.(?)" "p.(Leu2Pro)" "" "0000544683" "00025629" "10" "432" "-11" "432" "-10" "c.432-11_432-10insA" "r.(=)" "p.(=)" "" "0000691099" "00025629" "90" "35" "-2" "35" "-2" "c.35-2A>G" "r.spl?" "p.?" "" "0000723512" "00025629" "30" "140" "0" "140" "0" "c.140T>C" "r.(?)" "p.(Val47Ala)" "" "0000783535" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783536" "00025629" "90" "398" "0" "398" "0" "c.398T>G" "r.(?)" "p.(Leu133*)" "" "0000783537" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783538" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783539" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783540" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783541" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783542" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783543" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783544" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783545" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783546" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783547" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783548" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783549" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000783550" "00025629" "90" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85*)" "" "0000783592" "00025629" "70" "216" "0" "216" "0" "c.216T>C" "r.(=)" "p.(=)" "" "0000783724" "00025629" "90" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Arg73Cys)" "" "0000783725" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000791791" "00025629" "70" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000791792" "00025629" "70" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000791873" "00025629" "70" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Ter)" "" "0000795055" "00025629" "90" "" "0" "" "0" "c.*558G>A" "r.(?)" "p.?" "" "0000805210" "00025629" "50" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85Gln)" "" "0000814077" "00025629" "50" "" "0" "" "0" "c.*558G>A" "r.(?)" "p.?" "" "0000818279" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000818280" "00025629" "90" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85*)" "" "0000818283" "00025629" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Arg73Leu)" "" "0000828528" "00025629" "50" "289" "0" "289" "0" "c.289T>A" "r.(?)" "p.(Phe97Ile)" "" "0000853048" "00025629" "10" "35" "-17" "35" "-17" "c.35-17C>T" "r.(=)" "p.(=)" "" "0000853049" "00025629" "50" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Leu)" "" "0000889996" "00025629" "30" "140" "0" "140" "0" "c.140T>C" "r.(?)" "p.(Val47Ala)" "" "0000889997" "00025629" "30" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Leu)" "" "0000979680" "00025629" "90" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85*)" "" "0001007128" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007129" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007130" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007131" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007132" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007133" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007134" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007135" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007136" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007137" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007138" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007139" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007140" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007141" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007142" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007143" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007144" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007145" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007146" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007147" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007148" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007149" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007150" "00025629" "90" "-69" "0" "-69" "0" "c.-69G>T" "r.=|red" "p.=|red" "_1" "0001007151" "00025629" "90" 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