### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM38B) # 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}}" "TMEM38B" "transmembrane protein 38B" "9" "q31.2" "unknown" "NG_032971.1" "UD_136094666015" "" "https://www.LOVD.nl/TMEM38B" "Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases \r\nOsteogenesis Imperfecta Federation Europe (OIFE) " "1" "25535" "55151" "611236" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nThis database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/TMEM38B_codingDNA.html" "1" "" "
Osteogenesis Imperfecta Variant Database\r\n
\r\n\r\n
" "-1" "" "-1" "00001" "2012-11-13 00:00:00" "00085" "2022-04-05 13:13:29" "00000" "2025-11-01 13:22:20" ## 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}}" "00025614" "TMEM38B" "transmembrane protein 38B" "001" "NM_018112.2" "" "NP_060582.1" "" "" "" "-136" "3407" "876" "108456806" "108538892" "00006" "2021-05-12 09:13:29" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01143" "OI14" "osteogenesis imperfecta, type XIV (OI14)" "" "615066" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-12 09:12:05" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TMEM38B" "01143" "TMEM38B" "05296" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{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}}" "00300374" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam28" "00300375" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam29" "00327455" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "M" "" "Turkey" "" "0" "" "" "" "B40" "00331576" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2F)" "F" "yes" "" "" "0" "" "" "Arab" "11DG0907, 14DG0982" "00331577" "" "" "" "4" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 4 affected (4F)" "F" "yes" "" "" "0" "" "" "Arab" "09DG00035, 09DG00036 , 10DG2179 , 11DG0676" "00331578" "" "" "" "4" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 4 affected (F, 3M)" "F;M" "yes" "" "" "0" "" "" "Arab" "12DG0244 ,12DG0245 , 12DG0246 , 12DG0830" "00331579" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "14DG2011" "00372871" "" "" "" "1" "" "00085" "{PMID:Rubinato 2014:24835313}" "The parents are possibly related.; The 33,892 bp deletion spans exons 1 and 2. It was originally reported as chr9:108444592_108478483del, probably for an earlier genome build." "" "" "Albania" "" "0" "" "" "" "" "00372872" "" "" "" "1" "" "00085" "{PMID:Cabral 2016:27441836}" "" "" "" "" "" "0" "" "" "Europe" "Proband 2" "00372873" "" "" "" "1" "" "00085" "{PMID:Cao 2019:30913006}" "" "" "" "China" "" "0" "" "" "" "P2" "00372874" "" "" "" "1" "" "00085" "{PMID:Lv 2016:26911354}" "" "" "" "China" "" "0" "" "" "Han" "Family 1" "00372875" "" "" "" "1" "" "00085" "{PMID:Shaheen 2012:23054245}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "OI-F3 IV:2" "00372876" "" "" "" "1" "" "00085" "{PMID:Shaheen 2012:23054245}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "OI-F11 IV:3" "00372877" "" "" "" "1" "" "00085" "{PMID:Shaheen 2012:23054245}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "OI-F13 IV:6" "00372878" "" "" "" "1" "" "03868" "{PMID:Volodarsky 2013:23316006}" "" "" "" "Israel" "" "0" "" "" "Bedouin" "P3-IV:1" "00372879" "" "" "" "1" "" "03868" "{PMID:Volodarsky 2013:23316006}" "" "" "" "Israel" "" "0" "" "" "Bedouin" "P1-II:1" "00372880" "" "" "" "1" "" "03868" "{PMID:Volodarsky 2013:23316006}" "" "" "" "Israel" "" "0" "" "" "Bedouin" "P2-IV:1" "00372881" "" "" "" "1" "" "00085" "{PMID:Cabral 2016:27441836}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Proband 1" "00372882" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "Additional two sisters of the proband were found homozygous for the same mutation" "" "" "Palestine" "" "0" "" "" "" "AN_005820" "00372883" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "An additional sister and two cousins of the proband were found homozygous for the same mutation" "" "" "Palestine" "" "0" "" "" "" "AN_005821" "00372884" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Palestine" "" "0" "" "" "" "AN_005822" "00372885" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Palestine" "" "0" "" "" "" "AN_005823" "00372886" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Palestine" "" "0" "" "" "" "AN_005824" "00372887" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Palestine" "" "0" "" "" "" "AN_005825" "00372888" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Palestine" "" "0" "" "" "" "AN_005826" "00372889" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "The probands sister harbors the same homozygous mutation" "" "" "Palestine" "" "0" "" "" "" "AN_005827" "00372890" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "The probands OI diagnosed sister harbors the same homozygous mutation" "" "" "Palestine" "" "0" "" "" "" "AN_005828" "00372891" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Palestine" "" "0" "" "" "" "AN_005829" "00372892" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Palestine" "" "0" "" "" "" "AN_005830" "00372893" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "Additional 2 cousins were found homozygous for the same deletion" "" "" "Palestine" "" "0" "" "" "" "AN_005831" "00372894" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Egypt" "" "0" "" "" "" "No. 1" "00372896" "" "" "" "1" "" "00085" "{PMID:Cabral 2016:27441836}" "" "" "yes" "Pakistan" "" "0" "" "" "" "Proband 3" "00372897" "" "" "" "1" "" "00085" "{PMID:Lv 2016:26911354}" "The proband also has an affected younger brother." "" "" "China" "" "0" "" "" "Han" "Family 2" "00372898" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Turkey" "" "0" "" "" "" "No. 44" "00466822" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat109" "00466823" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat110" "00466824" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat111" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00300374" "05296" "00300375" "05296" "00327455" "05296" "00331576" "05517" "00331577" "05517" "00331578" "05517" "00331579" "05517" "00372871" "05296" "00372872" "05296" "00372873" "05296" "00372874" "05296" "00372875" "05296" "00372876" "05296" "00372877" "05296" "00372878" "05296" "00372879" "05296" "00372880" "05296" "00372881" "05296" "00372882" "05296" "00372883" "05296" "00372884" "05296" "00372885" "05296" "00372886" "05296" "00372887" "05296" "00372888" "05296" "00372889" "05296" "00372890" "05296" "00372891" "05296" "00372892" "05296" "00372893" "05296" "00372894" "05296" "00372896" "05296" "00372897" "05296" "00372898" "05296" "00466822" "05296" "00466823" "05296" "00466824" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01143, 05296, 05517 ## Count = 37 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000227682" "05296" "00300374" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type IV" "0000227683" "05296" "00300375" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type IV" "0000245744" "05296" "00327455" "00006" "Unknown" "5y" "" "" "" "" "" "" "" "" "OI-14" "osteogenesis imperfecta" "0000249768" "05517" "00331576" "00000" "Familial, autosomal recessive" "" "Recurrent fractures" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "0000249769" "05517" "00331577" "00000" "Familial, autosomal recessive" "" "Recurrent fractures, Delayed speech and language development" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "0000249770" "05517" "00331578" "00000" "Familial, autosomal recessive" "" "Recurrent fractures" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "0000249771" "05517" "00331579" "00000" "Familial, autosomal recessive" "" "Recurrent fractures, Bowing of the legs" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "0000268147" "05296" "00372871" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI" "0000268148" "05296" "00372872" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268149" "05296" "00372873" "00085" "Unknown" "" "The authors were contacted for further clarification of the OI type. They stated that the patient could be classified as type 3 according to the 5 types of OI (Bonafe et al., 2015, PMID: 26394607)." "" "" "" "" "" "" "" "" "OI" "0000268150" "05296" "00372874" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI" "0000268151" "05296" "00372875" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI" "0000268152" "05296" "00372876" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI" "0000268153" "05296" "00372877" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI" "0000268154" "05296" "00372878" "03868" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI" "0000268155" "05296" "00372879" "03868" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI" "0000268156" "05296" "00372880" "03868" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI" "0000268157" "05296" "00372881" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268158" "05296" "00372882" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268159" "05296" "00372883" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268160" "05296" "00372884" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268161" "05296" "00372885" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268162" "05296" "00372886" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268163" "05296" "00372887" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268164" "05296" "00372888" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268165" "05296" "00372889" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268166" "05296" "00372890" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268167" "05296" "00372891" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268168" "05296" "00372892" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268169" "05296" "00372893" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268170" "05296" "00372894" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI III" "0000268172" "05296" "00372896" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI XIV" "0000268173" "05296" "00372897" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI" "0000268174" "05296" "00372898" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI" "0000352185" "05296" "00466822" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352186" "05296" "00466823" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352187" "05296" "00466824" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000301495" "00300374" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301496" "00300375" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000328667" "00327455" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000332795" "00331576" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332796" "00331577" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332797" "00331578" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332798" "00331579" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374105" "00372871" "1" "00085" "00085" "2014-10-03 08:47:47" "00085" "2016-07-22 16:06:05" "PCR;SEQ" "DNA" "" "" "0000374106" "00372872" "1" "00085" "00085" "2016-07-22 16:11:07" "" "" "PCR;SEQ" "DNA" "" "" "0000374107" "00372873" "1" "00085" "00085" "2019-08-16 11:34:54" "00085" "2019-08-23 14:58:32" "SEQ" "DNA" "" "" "0000374108" "00372874" "1" "00085" "00085" "2016-07-25 14:06:35" "00085" "2016-07-25 14:08:29" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374109" "00372875" "1" "00085" "00085" "2012-11-13 08:43:18" "00085" "2012-11-13 08:49:35" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374110" "00372876" "1" "00085" "00085" "2012-11-13 08:46:23" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374111" "00372877" "1" "00085" "00085" "2012-11-13 08:48:53" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374112" "00372878" "1" "03868" "03868" "2012-12-06 13:40:42" "00085" "2013-01-15 11:25:39" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374113" "00372879" "1" "03868" "03868" "2012-12-07 09:36:17" "00085" "2013-01-15 11:26:05" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374114" "00372880" "1" "03868" "03868" "2012-12-07 09:56:17" "00085" "2013-01-15 11:26:44" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374115" "00372881" "1" "00085" "00085" "2016-07-22 15:53:35" "00085" "2016-07-22 15:56:01" "PCR;SEQ" "DNA" "" "" "0000374116" "00372882" "1" "01819" "01819" "2016-11-28 17:26:30" "" "" "arrayCGH;PCR;SEQ" "DNA" "" "" "0000374117" "00372883" "1" "01819" "01819" "2016-11-28 17:29:26" "" "" "arrayCGH;PCR;arraySEQ" "DNA" "" "" "0000374118" "00372884" "1" "01819" "01819" "2016-11-28 17:31:46" "" "" "PCR;SEQ" "DNA" "" "" "0000374119" "00372885" "1" "01819" "01819" "2016-11-28 17:36:51" "" "" "arrayCGH;PCR;SEQ" "DNA" "" "" "0000374120" "00372886" "1" "01819" "01819" "2016-11-28 17:38:48" "" "" "PCR;SEQ" "DNA" "" "" "0000374121" "00372887" "1" "01819" "01819" "2016-11-28 17:45:40" "" "" "PCR;SEQ" "DNA" "" "" "0000374122" "00372888" "1" "01819" "01819" "2016-11-28 17:47:19" "" "" "PCR;SEQ" "DNA" "" "" "0000374123" "00372889" "1" "01819" "01819" "2016-11-28 17:49:15" "01819" "2016-11-29 17:49:19" "PCR;SEQ" "DNA" "" "" "0000374124" "00372890" "1" "01819" "01819" "2016-11-28 17:52:18" "" "" "PCR;SEQ" "DNA" "" "" "0000374125" "00372891" "1" "01819" "01819" "2016-11-28 17:57:00" "" "" "PCR;SEQ" "DNA" "" "" "0000374126" "00372892" "1" "01819" "01819" "2016-11-28 17:58:12" "" "" "PCR;SEQ" "DNA" "" "" "0000374127" "00372893" "1" "01819" "01819" "2016-11-28 18:00:01" "" "" "PCR;SEQ" "DNA" "" "" "0000374128" "00372894" "1" "00085" "00085" "2017-03-16 16:13:16" "" "" "PCR;SEQ" "DNA" "" "" "0000374130" "00372896" "1" "00085" "00085" "2016-07-22 16:20:06" "" "" "PCR;SEQ" "DNA" "" "" "0000374131" "00372897" "1" "00085" "00085" "2016-07-25 14:15:12" "00085" "2016-07-25 14:16:22" "PCR;SEQ" "DNA" "" "" "0000374132" "00372898" "1" "00085" "00085" "2017-03-16 16:16:09" "00085" "2017-03-16 16:19:28" "PCR;SEQ" "DNA" "" "" "0000468486" "00466822" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468487" "00466823" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468488" "00466824" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{geneid}}" "0000301495" "TMEM38B" "0000301496" "TMEM38B" "0000328667" "TMEM38B" "0000332795" "TMEM38B" "0000332796" "TMEM38B" "0000332797" "TMEM38B" "0000332798" "TMEM38B" "0000374105" "TMEM38B" "0000374106" "TMEM38B" "0000374107" "TMEM38B" "0000374108" "TMEM38B" "0000374109" "TMEM38B" "0000374110" "TMEM38B" "0000374111" "TMEM38B" "0000374112" "TMEM38B" "0000374113" "TMEM38B" "0000374114" "TMEM38B" "0000374115" "TMEM38B" "0000374116" "TMEM38B" "0000374117" "TMEM38B" "0000374118" "TMEM38B" "0000374119" "TMEM38B" "0000374120" "TMEM38B" "0000374121" "TMEM38B" "0000374122" "TMEM38B" "0000374123" "TMEM38B" "0000374124" "TMEM38B" "0000374125" "TMEM38B" "0000374126" "TMEM38B" "0000374127" "TMEM38B" "0000374128" "TMEM38B" "0000374130" "TMEM38B" "0000374131" "TMEM38B" "0000374132" "TMEM38B" ## 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 = 55 "{{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}}" "0000250221" "0" "10" "9" "108467871" "108467871" "subst" "0.00455995" "02329" "TMEM38B_000101" "g.108467871A>G" "" "" "" "TMEM38B(NM_018112.1):c.113-7A>G (p.(=)), TMEM38B(NM_018112.3):c.113-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105705590A>G" "" "benign" "" "0000313330" "0" "90" "9" "108483959" "108483959" "subst" "4.07867E-6" "02329" "TMEM38B_000102" "g.108483959C>A" "" "" "" "TMEM38B(NM_018112.3):c.411C>A (p.Y137*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105721678C>A" "" "pathogenic" "" "0000313331" "0" "30" "9" "108536233" "108536233" "subst" "0.00146368" "02329" "TMEM38B_000103" "g.108536233C>T" "" "" "" "TMEM38B(NM_018112.1):c.748C>T (p.(Pro250Ser)), TMEM38B(NM_018112.2):c.748C>T (p.P250S), TMEM38B(NM_018112.3):c.748C>T (p.P250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105773952C>T" "" "likely benign" "" "0000313332" "0" "10" "9" "108536246" "108536246" "subst" "0.0134975" "02329" "TMEM38B_000104" "g.108536246G>C" "" "" "" "TMEM38B(NM_018112.1):c.761G>C (p.(Cys254Ser)), TMEM38B(NM_018112.3):c.761G>C (p.C254S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105773965G>C" "" "benign" "" "0000313333" "0" "30" "9" "108536284" "108536284" "subst" "0.00278855" "02329" "TMEM38B_000105" "g.108536284G>A" "" "" "" "TMEM38B(NM_018112.3):c.799G>A (p.V267I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105774003G>A" "" "likely benign" "" "0000535984" "0" "30" "9" "108536233" "108536233" "subst" "0.00146368" "01804" "TMEM38B_000103" "g.108536233C>T" "" "" "" "TMEM38B(NM_018112.1):c.748C>T (p.(Pro250Ser)), TMEM38B(NM_018112.2):c.748C>T (p.P250S), TMEM38B(NM_018112.3):c.748C>T (p.P250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105773952C>T" "" "likely benign" "" "0000535985" "0" "30" "9" "108536246" "108536246" "subst" "0.0134975" "01804" "TMEM38B_000104" "g.108536246G>C" "" "" "" "TMEM38B(NM_018112.1):c.761G>C (p.(Cys254Ser)), TMEM38B(NM_018112.3):c.761G>C (p.C254S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105773965G>C" "" "likely benign" "" "0000611805" "0" "50" "9" "108456979" "108456979" "subst" "1.2199E-5" "01804" "TMEM38B_000106" "g.108456979C>G" "" "" "" "TMEM38B(NM_018112.1):c.38C>G (p.(Ser13Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105694698C>G" "" "VUS" "" "0000611806" "0" "30" "9" "108467871" "108467871" "subst" "0.00455995" "01804" "TMEM38B_000101" "g.108467871A>G" "" "" "" "TMEM38B(NM_018112.1):c.113-7A>G (p.(=)), TMEM38B(NM_018112.3):c.113-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105705590A>G" "" "likely benign" "" "0000664445" "1" "90" "9" "108484808" "108484808" "subst" "0" "00006" "TMEM38B_000007" "g.108484808T>G" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.105722527T>G" "" "pathogenic (dominant)" "" "0000664446" "3" "90" "9" "108484867" "108484867" "subst" "1.21885E-5" "00006" "TMEM38B_000006" "g.108484867G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.105722586G>A" "" "pathogenic (recessive)" "" "0000712626" "3" "70" "9" "108457054" "108457054" "dup" "0" "00006" "TMEM38B_000109" "g.108457054dup" "" "{PMID:Demir 2021:33470886}" "" "" "both unaffected parents heterozygous carriers" "Germline" "" "" "0" "" "" "g.105694773dup" "" "likely pathogenic" "" "0000730077" "3" "90" "9" "108484817" "108484904" "del" "0" "00000" "TMEM38B_000110" "g.108484817_108484904del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_018112.1:c.455_542del:p.(Gly152Alafs*5)" "" "Germline" "" "" "0" "" "" "g.105722536_105722623del" "" "pathogenic (recessive)" "" "0000730078" "3" "90" "9" "108484817" "108484904" "del" "0" "00000" "TMEM38B_000110" "g.108484817_108484904del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_018112.1:c.455_542del:p.(Gly152Alafs*5)" "" "Germline" "" "" "0" "" "" "g.105722536_105722623del" "" "pathogenic (recessive)" "" "0000730079" "3" "90" "9" "108484817" "108484904" "del" "0" "00000" "TMEM38B_000110" "g.108484817_108484904del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_018112.1:c.455_542del:p.(Gly152Alafs*5)" "" "Germline" "" "" "0" "" "" "g.105722536_105722623del" "" "pathogenic (recessive)" "" "0000730080" "3" "90" "9" "108484817" "108484904" "del" "0" "00000" "TMEM38B_000110" "g.108484817_108484904del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_018112.1:c.455_542del:p.(Gly152Alafs*5)" "" "Germline" "" "" "0" "" "" "g.105722536_105722623del" "" "pathogenic (recessive)" "" "0000784819" "3" "99" "9" "108444592" "108478483" "del" "0" "00085" "TMEM38B_000004" "g.108444592_108478483del" "" "{PMID:Rubinato 2014:24835313}" "" "GRCh38 chr9:g.105,682,311_105,716,202del" "" "Germline" "" "" "0" "" "" "g.105682311_105716202del" "" "pathogenic" "" "0000784820" "11" "99" "9" "108444592" "108478483" "del" "0" "00085" "TMEM38B_000004" "g.108444592_108478483del" "" "{PMID:Cabral 2016:27441836}" "" "GRCh38 chr9:g.105,682,311_105,716,202del" "" "Germline" "" "" "0" "" "" "g.105682311_105716202del" "" "pathogenic" "" "0000784821" "21" "99" "9" "108457004" "108457004" "dup" "0" "00085" "TMEM38B_000005" "g.108457004dup" "" "{PMID:Cabral 2016:27441836}" "" "63dupT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784822" "21" "95" "9" "108467915" "108467915" "subst" "0" "00085" "TMEM38B_000008" "g.108467915C>G" "" "{PMID:Cao 2019:30913006}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784823" "3" "99" "9" "108484808" "108484808" "subst" "0" "00085" "TMEM38B_000007" "g.108484808T>G" "" "{PMID:Lv 2016:26911354}" "" "" "shifts the 3ยด splice site by six bases and results in a two-amino-acid insertion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784824" "3" "99" "9" "108484814" "108484903" "?" "0" "00085" "TMEM38B_000001" "g.(108484003_108484814)_(108484903_108510353)del" "" "{PMID:Shaheen 2012:23054245}" "" "c.455-?_542+?del" "" "Germline" "" "" "0" "" "" "g.(105721722_105722533)_(105722622_105748072)del" "" "pathogenic" "" "0000784825" "3" "99" "9" "108484814" "108484903" "?" "0" "00085" "TMEM38B_000001" "g.(108484003_108484814)_(108484903_108510353)del" "" "{PMID:Shaheen 2012:23054245}" "" "c.455-?_542+?del" "" "Germline" "" "" "0" "" "" "g.(105721722_105722533)_(105722622_105748072)del" "" "pathogenic" "" "0000784826" "3" "99" "9" "108484814" "108484903" "?" "0" "00085" "TMEM38B_000001" "g.(108484003_108484814)_(108484903_108510353)del" "" "{PMID:Shaheen 2012:23054245}" "" "c.455-?_542+?del" "" "Germline" "" "" "0" "" "" "g.(105721722_105722533)_(105722622_105748072)del" "" "pathogenic" "" "0000784827" "3" "99" "9" "108484281" "108505262" "delins" "0" "03868" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Volodarsky 2013:23316006}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784828" "3" "99" "9" "108484281" "108505262" "delins" "0" "03868" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Volodarsky 2013:23316006}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784829" "3" "99" "9" "108484281" "108505262" "delins" "0" "03868" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Volodarsky 2013:23316006}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784830" "3" "99" "9" "108484281" "108505262" "delins" "0" "00085" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Cabral 2016:27441836}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784831" "3" "95" "9" "108484281" "108505262" "delins" "0" "01819" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Essawi 2018:29150909}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784832" "3" "95" "9" "108484281" "108505262" "delins" "0" "01819" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Essawi 2018:29150909}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784833" "3" "95" "9" "108484281" "108505262" "delins" "0" "01819" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Essawi 2018:29150909}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784834" "10" "95" "9" "108484281" "108505262" "delins" "0" "01819" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Essawi 2018:29150909}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784835" "3" "95" "9" "108484281" "108505262" "delins" "0" "01819" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Essawi 2018:29150909}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784836" "3" "95" "9" "108484281" "108505262" "delins" "0" "01819" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Essawi 2018:29150909}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784837" "3" "95" "9" "108484281" "108505262" "delins" "0" "01819" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Essawi 2018:29150909}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784838" "3" "95" "9" "108484281" "108505262" "delins" "0" "01819" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Essawi 2018:29150909}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784839" "3" "95" "9" "108484281" "108505262" "delins" "0" "01819" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Essawi 2018:29150909}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784840" "3" "95" "9" "108484281" "108505262" "delins" "0" "01819" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Essawi 2018:29150909}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784841" "3" "95" "9" "108484281" "108505262" "delins" "0" "01819" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Essawi 2018:29150909}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784842" "3" "95" "9" "108484281" "108505262" "delins" "0" "01819" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Essawi 2018:29150909}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784843" "3" "99" "9" "108484281" "108505262" "delins" "0" "00085" "TMEM38B_000003" "g.108484281_108505262delinsATTAAGGTATA" "" "{PMID:Caparros-Martin 2016:28116328}" "" "g.32476_53457delinsATTAAGGTATA" "" "Germline" "" "" "0" "" "" "g.105722000_105742981delinsATTAAGGTATA" "" "pathogenic" "" "0000784845" "3" "99" "9" "108484867" "108484867" "subst" "1.21885E-5" "00085" "TMEM38B_000006" "g.108484867G>A" "" "{PMID:Cabral 2016:27441836}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784846" "3" "99" "9" "108484867" "108484867" "subst" "1.21885E-5" "00085" "TMEM38B_000006" "g.108484867G>A" "" "{PMID:Lv 2016:26911354}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784847" "20" "95" "9" "108484867" "108484867" "subst" "1.21885E-5" "01819" "TMEM38B_000006" "g.108484867G>A" "" "{PMID:Essawi 2018:29150909}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784848" "3" "99" "9" "108484867" "108484867" "subst" "1.21885E-5" "00085" "TMEM38B_000006" "g.108484867G>A" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784849" "11" "95" "9" "108484867" "108484867" "subst" "1.21885E-5" "00085" "TMEM38B_000006" "g.108484867G>A" "" "{PMID:Cao 2019:30913006}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000852063" "0" "30" "9" "108536233" "108536233" "subst" "0.00146368" "01943" "TMEM38B_000103" "g.108536233C>T" "" "" "" "TMEM38B(NM_018112.1):c.748C>T (p.(Pro250Ser)), TMEM38B(NM_018112.2):c.748C>T (p.P250S), TMEM38B(NM_018112.3):c.748C>T (p.P250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861348" "0" "90" "9" "108467928" "108467928" "dup" "0" "02327" "TMEM38B_000111" "g.108467928dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000933692" "0" "50" "9" "108456984" "108456984" "subst" "0.000231802" "03779" "TMEM38B_000112" "g.108456984A>C" "" "" "" "" "" "Unknown" "" "rs138722007" "0" "" "" "" "" "VUS" "" "0000997426" "0" "50" "9" "108536204" "108536204" "subst" "0" "02329" "TMEM38B_000113" "g.108536204T>C" "" "" "" "TMEM38B(NM_018112.3):c.719T>C (p.(Leu240Ser), p.L240S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037123" "0" "50" "9" "108467941" "108467941" "subst" "0" "01804" "TMEM38B_000114" "g.108467941T>G" "" "" "" "TMEM38B(NM_018112.3):c.176T>G (p.(Phe59Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048320" "3" "90" "9" "108484867" "108484867" "subst" "1.21885E-5" "00006" "TMEM38B_000006" "g.108484867G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM2, PM5, PP2, PP3, PM6" "Germline" "" "" "0" "" "" "g.105722586G>A" "" "pathogenic" "" "0001048321" "3" "90" "9" "108457054" "108457054" "subst" "0" "00006" "TMEM38B_000115" "g.108457054G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM4, PS3, PP3, PP5, BS3" "Germline" "" "" "0" "" "" "g.105694773G>A" "" "pathogenic" "" "0001048322" "3" "90" "9" "108457054" "108457054" "subst" "0" "00006" "TMEM38B_000115" "g.108457054G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3, PM6" "Germline" "" "" "0" "" "" "g.105694773G>A" "" "pathogenic" "" "0001053314" "0" "50" "9" "108536204" "108536204" "subst" "0" "01804" "TMEM38B_000113" "g.108536204T>C" "" "" "" "TMEM38B(NM_018112.3):c.719T>C (p.(Leu240Ser), p.L240S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TMEM38B ## Count = 55 "{{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}}" "0000250221" "00025614" "10" "113" "-7" "113" "-7" "c.113-7A>G" "r.(=)" "p.(=)" "" "0000313330" "00025614" "90" "411" "0" "411" "0" "c.411C>A" "r.(?)" "p.(Tyr137Ter)" "" "0000313331" "00025614" "30" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Pro250Ser)" "" "0000313332" "00025614" "10" "761" "0" "761" "0" "c.761G>C" "r.(?)" "p.(Cys254Ser)" "" "0000313333" "00025614" "30" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Val267Ile)" "" "0000535984" "00025614" "30" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Pro250Ser)" "" "0000535985" "00025614" "30" "761" "0" "761" "0" "c.761G>C" "r.(?)" "p.(Cys254Ser)" "" "0000611805" "00025614" "50" "38" "0" "38" "0" "c.38C>G" "r.(?)" "p.(Ser13Cys)" "" "0000611806" "00025614" "30" "113" "-7" "113" "-7" "c.113-7A>G" "r.(=)" "p.(=)" "" "0000664445" "00025614" "90" "455" "-7" "455" "-7" "c.455-7T>G" "r.spl" "p.?" "3i" "0000664446" "00025614" "90" "507" "0" "507" "0" "c.507G>A" "r.(?)" "p.(Trp169*)" "4" "0000712626" "00025614" "70" "112" "1" "112" "1" "c.112+1dup" "r.spl" "p.?" "" "0000730077" "00025614" "90" "457" "0" "542" "2" "c.457_542+2del" "r.spl?" "p.?" "" "0000730078" "00025614" "90" "457" "0" "542" "2" "c.457_542+2del" "r.spl?" "p.?" "" "0000730079" "00025614" "90" "457" "0" "542" "2" "c.457_542+2del" "r.spl?" "p.?" "" "0000730080" "00025614" "90" "457" "0" "542" "2" "c.457_542+2del" "r.spl?" "p.?" "" "0000784819" "00025614" "99" "0" "0" "0" "0" "c.-136_270-5335{0}" "r.0?" "p.0?" "_1_2i" "0000784820" "00025614" "99" "0" "0" "0" "0" "c.-136_270-5335{0}" "r.0?" "p.0?" "_1_2i" "0000784821" "00025614" "99" "63" "0" "63" "0" "c.63dup" "r.(?)" "p.(Asp22*)" "1" "0000784822" "00025614" "95" "150" "0" "150" "0" "c.150C>G" "r.(?)" "p.(Ser50Arg)" "2" "0000784823" "00025614" "99" "455" "-7" "455" "-7" "c.455-7T>G" "r.spl" "p.Arg151_Gly152insValLeu" "3i" "0000784824" "00025614" "99" "455" "-1" "542" "1" "c.(454+1_455-1)_(542+1_543-1)del" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784825" "00025614" "99" "455" "-1" "542" "1" "c.(454+1_455-1)_(542+1_543-1)del" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784826" "00025614" "99" "455" "-1" "542" "1" "c.(454+1_455-1)_(542+1_543-1)del" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784827" "00025614" "99" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784828" "00025614" "99" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784829" "00025614" "99" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784830" "00025614" "99" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784831" "00025614" "95" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784832" "00025614" "95" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784833" "00025614" "95" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784834" "00025614" "95" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784835" "00025614" "95" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784836" "00025614" "95" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784837" "00025614" "95" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784838" "00025614" "95" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784839" "00025614" "95" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784840" "00025614" "95" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784841" "00025614" "95" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784842" "00025614" "95" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784843" "00025614" "99" "454" "279" "543" "-5092" "c.454+279_543-5092delinsATTAAGGTATA" "r.spl" "p.(Gly152Alafs*5)" "3i_4i" "0000784845" "00025614" "99" "507" "0" "507" "0" "c.507G>A" "r.(?)" "p.(Trp169*)" "4" "0000784846" "00025614" "99" "507" "0" "507" "0" "c.507G>A" "r.(?)" "p.(Trp169*)" "4" "0000784847" "00025614" "95" "507" "0" "507" "0" "c.507G>A" "r.(?)" "p.(Trp169*)" "4" "0000784848" "00025614" "99" "507" "0" "507" "0" "c.507G>A" "r.(?)" "p.(Trp169*)" "4" "0000784849" "00025614" "95" "507" "0" "507" "0" "c.507G>A" "r.(?)" "p.(Trp169*)" "4" "0000852063" "00025614" "30" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Pro250Ser)" "" "0000861348" "00025614" "90" "163" "0" "163" "0" "c.163dup" "r.(?)" "p.(Met55Asnfs*28)" "" "0000933692" "00025614" "50" "43" "0" "43" "0" "c.43A>C" "r.(?)" "p.(Thr15Pro)" "" "0000997426" "00025614" "50" "719" "0" "719" "0" "c.719T>C" "r.(?)" "p.(Leu240Ser)" "" "0001037123" "00025614" "50" "176" "0" "176" "0" "c.176T>G" "r.(?)" "p.(Phe59Cys)" "" "0001048320" "00025614" "90" "507" "0" "507" "0" "c.507G>A" "r.(?)" "p.(Trp169Ter)" "" "0001048321" "00025614" "90" "112" "1" "112" "1" "c.112+1G>A" "r.spl" "p.?" "" "0001048322" "00025614" "90" "112" "1" "112" "1" "c.112+1G>A" "r.spl" "p.?" "" "0001053314" "00025614" "50" "719" "0" "719" "0" "c.719T>C" "r.(?)" "p.(Leu240Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{variantid}}" "0000301495" "0000664445" "0000301496" "0000664446" "0000328667" "0000712626" "0000332795" "0000730077" "0000332796" "0000730078" "0000332797" "0000730079" "0000332798" "0000730080" "0000374105" "0000784819" "0000374106" "0000784820" "0000374106" "0000784821" "0000374107" "0000784822" "0000374107" "0000784849" "0000374108" "0000784823" "0000374109" "0000784824" "0000374110" "0000784825" "0000374111" "0000784826" "0000374112" "0000784827" "0000374113" "0000784828" "0000374114" "0000784829" "0000374115" "0000784830" "0000374116" "0000784831" "0000374117" "0000784832" "0000374118" "0000784833" "0000374119" "0000784834" "0000374119" "0000784847" "0000374120" "0000784835" "0000374121" "0000784836" "0000374122" "0000784837" "0000374123" "0000784838" "0000374124" "0000784839" "0000374125" "0000784840" "0000374126" "0000784841" "0000374127" "0000784842" "0000374128" "0000784843" "0000374130" "0000784845" "0000374131" "0000784846" "0000374132" "0000784848" "0000468486" "0001048320" "0000468487" "0001048321" "0000468488" "0001048322"