### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NUBPL) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "NUBPL" "nucleotide binding protein-like" "14" "q12" "unknown" "NC_000014.8" "UD_132118637843" "" "" "" "1" "1" "20278" "80224" "613621" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "{{iNote}}" "{{chrom}}" "00000227" "NUBPL" "transcript variant 1" "001" "NM_025152.2" "" "NP_079428.2" "" "" "" "-55" "3004" "960" "32030591" "32330430" "00001" "2013-11-07 13:57:21" "" "" "" "14" "00000228" "NUBPL" "transcript variant 2" "002" "NM_001201573.1" "" "NP_001188502.1" "" "" "" "-107" "2716" "672" "32047122" "32330430" "00001" "2013-11-07 13:57:21" "" "" "" "14" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00011" "252010" "Mitochondrial complex I deficiency, 252010 (3)" "252010" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00596" "618242" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21; MC1DN21" "618242" "" "" "" "00000" "2019-03-01 12:40:01" "" "" "Added by batch from OMIM 2019-01-20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NUBPL" "00011" "NUBPL" "00596" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 80 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000000533" "0" "99" "14" "32031331" "32031331" "subst" "51" "0.000338639" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 17:13:20" "NUBPL_000001" "g.32031331G>A" "" "{PMID:23553477:23553477};{PMID:22072591:22072591};{PMID:20818383:20818383}" "" "rs200401432" "subst" "0" "; clinVar; ensembl;" "6.040" "" "" "" "" "MSCV_0000533" "" "0000000534" "0" "99" "14" "32068516" "32068516" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-07-01 22:19:07" "NUBPL_000002" "g.32068516G>T" "" "{PMID:23553477:23553477}" "" "rs397515440" "subst" "0" "; clinVar; ensembl;" "5.400" "" "" "" "" "MSCV_0000534" "" "0000000535" "0" "00" "14" "32256972" "32256972" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-09-01 11:15:08" "NUBPL_000004" "g.32256972T>C" "" "" "" "NA" "subst" "0" ";" "5.860" "" "" "" "" "MSCV_0000535" "" "0000000536" "0" "99" "14" "32319298" "32319298" "subst" "35" "0.0034787" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-11-28 04:36:26" "NUBPL_000003" "g.32319298T>C" "" "{PMID:20818383:20818383};{PMID:22072591:22072591};{PMID:23553477:23553477}" "" "rs118161496" "subst" "0" "; clinvar;" "6.070" "" "" "" "" "MSCV_0000536" "" "0000017371" "0" "55" "14" "32030607" "32030607" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:00:28" "NUBPL_000071" "g.32030607G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017371" "" "0000017372" "0" "55" "14" "32030621" "32030621" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:00:30" "NUBPL_000072" "g.32030621A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017372" "" "0000017373" "0" "77" "14" "32030633" "32030633" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:00:33" "NUBPL_000073" "g.32030633A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017373" "" "0000017374" "0" "77" "14" "32030639" "32030639" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:07" "NUBPL_000054" "g.32030639C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017374" "" "0000017375" "0" "77" "14" "32030645" "32030645" "subst" "35" "0.00770997" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:10" "NUBPL_000055" "g.32030645C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017375" "" "0000017376" "0" "55" "14" "32030691" "32030691" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:12" "NUBPL_000056" "g.32030691C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017376" "" "0000017377" "0" "77" "14" "32030722" "32030722" "subst" "35" "0.00395322" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:14" "NUBPL_000057" "g.32030722G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017377" "" "0000017378" "0" "55" "14" "32031263" "32031263" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:15" "NUBPL_000058" "g.32031263A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017378" "" "0000017379" "0" "77" "14" "32031327" "32031327" "subst" "35" "0.00593019" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:18" "NUBPL_000059" "g.32031327C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017379" "" "0000017380" "0" "55" "14" "32031331" "32031331" "subst" "35" "0.000338639" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:20" "NUBPL_000001" "g.32031331G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000533" "" "0000017381" "0" "55" "14" "32031364" "32031364" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:22" "NUBPL_000060" "g.32031364A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017381" "" "0000017382" "0" "55" "14" "32034248" "32034248" "subst" "35" "0.0000857045" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:24" "NUBPL_000061" "g.32034248C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017382" "" "0000017383" "0" "55" "14" "32034249" "32034249" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:26" "NUBPL_000062" "g.32034249G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017383" "" "0000017384" "0" "99" "14" "32068514" "32068514" "subst" "35" "0.0000848896" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:29" "NUBPL_000063" "g.32068514T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017384" "" "0000017385" "0" "77" "14" "32068516" "32068516" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:31" "NUBPL_000002" "g.32068516G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000534" "" "0000017386" "0" "55" "14" "32068572" "32068572" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:34" "NUBPL_000064" "g.32068572G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017386" "" "0000017387" "0" "55" "14" "32142561" "32142561" "subst" "35" "0.00102634" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:48:01" "NUBPL_000070" "g.32142561G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017387" "" "0000017388" "0" "55" "14" "32142562" "32142562" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:41:30" "NUBPL_000069" "g.32142562C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017388" "" "0000017389" "0" "55" "14" "32142755" "32142755" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:28:23" "NUBPL_000065" "g.32142755C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017389" "" "0000017390" "0" "77" "14" "32257017" "32257017" "subst" "35" "0.00318632" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:04:03" "NUBPL_000074" "g.32257017T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017390" "" "0000017391" "0" "55" "14" "32257045" "32257045" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:30:04" "NUBPL_000066" "g.32257045G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017391" "" "0000017392" "0" "99" "14" "32257051" "32257051" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:30:07" "NUBPL_000067" "g.32257051A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017392" "" "0000017393" "0" "55" "14" "32257075" "32257075" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:30:10" "NUBPL_000068" "g.32257075A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017393" "" "0000017394" "0" "77" "14" "32295866" "32295866" "subst" "35" "0.00232707" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:05" "NUBPL_000012" "g.32295866C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017394" "" "0000017395" "0" "00" "14" "32295888" "32295889" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:08" "NUBPL_000013" "g.32295888_32295889insGTGCTGCCTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017395" "" "0000017396" "0" "55" "14" "32295904" "32295904" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:10" "NUBPL_000014" "g.32295904G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017396" "" "0000017397" "0" "77" "14" "32295912" "32295912" "subst" "35" "0.000724988" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:13" "NUBPL_000015" "g.32295912C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017397" "" "0000017398" "0" "99" "14" "32295921" "32295921" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:01:53" "NUBPL_000016" "g.32295921G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017398" "" "0000017399" "0" "77" "14" "32319298" "32319298" "subst" "35" "0.0034787" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-28 05:48:37" "NUBPL_000003" "g.32319298T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000536" "" "0000017400" "0" "55" "14" "32319404" "32319404" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:22" "NUBPL_000017" "g.32319404T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017400" "" "0000017401" "0" "33" "14" "32328508" "32328508" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:25" "NUBPL_000018" "g.32328508G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017401" "" "0000017402" "0" "55" "14" "32328521" "32328521" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:27" "NUBPL_000019" "g.32328521T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017402" "" "0000017403" "0" "55" "14" "32328574" "32328574" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-26 11:39:39" "NUBPL_000020" "g.32328574T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017403" "" "0000017404" "0" "33" "14" "32328659" "32328659" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:33" "NUBPL_000021" "g.32328659C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017404" "" "0000017405" "0" "33" "14" "32328698" "32328698" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:35" "NUBPL_000022" "g.32328698G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017405" "" "0000017406" "0" "55" "14" "32328741" "32328741" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:38" "NUBPL_000023" "g.32328741T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017406" "" "0000017407" "0" "55" "14" "32328743" "32328743" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:40" "NUBPL_000024" "g.32328743C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017407" "" "0000017408" "0" "33" "14" "32328830" "32328830" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:43" "NUBPL_000025" "g.32328830C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017408" "" "0000017409" "0" "55" "14" "32328913" "32328913" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:46" "NUBPL_000026" "g.32328913G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017409" "" "0000017410" "0" "33" "14" "32328922" "32328923" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:48" "NUBPL_000027" "g.32328922_32328923insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017410" "" "0000017411" "0" "55" "14" "32328947" "32328947" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:51" "NUBPL_000028" "g.32328947G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017411" "" "0000017412" "0" "55" "14" "32329024" "32329024" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:55" "NUBPL_000029" "g.32329024C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017412" "" "0000017413" "0" "33" "14" "32329222" "32329222" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:59" "NUBPL_000030" "g.32329222C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017413" "" "0000017414" "0" "55" "14" "32329291" "32329291" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-12-01 04:11:25" "NUBPL_000031" "g.32329291A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017414" "" "0000017415" "0" "11" "14" "32329381" "32329381" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:52:05" "NUBPL_000032" "g.32329381T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017415" "" "0000017416" "0" "55" "14" "32329401" "32329401" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:52:34" "NUBPL_000033" "g.32329401C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017416" "" "0000017417" "0" "55" "14" "32329434" "32329434" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:52:46" "NUBPL_000034" "g.32329434G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017417" "" "0000017418" "0" "55" "14" "32329439" "32329439" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:52:49" "NUBPL_000035" "g.32329439G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017418" "" "0000017419" "0" "55" "14" "32329505" "32329506" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:10:28" "NUBPL_000040" "g.32329505_32329506insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017419" "" "0000017420" "0" "00" "14" "32329506" "32329507" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:24:30" "NUBPL_000041" "g.32329506_32329507insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017420" "" "0000017421" "0" "00" "14" "32329507" "32329509" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:30" "NUBPL_000043" "g.32329507_32329509del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017421" "" "0000017422" "0" "00" "14" "32329507" "32329508" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:27" "NUBPL_000042" "g.32329507_32329508insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017422" "" "0000017423" "0" "00" "14" "32329508" "32329510" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:35" "NUBPL_000045" "g.32329508_32329510del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017423" "" "0000017424" "0" "00" "14" "32329508" "32329509" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:33" "NUBPL_000044" "g.32329508_32329509insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017424" "" "0000017425" "0" "00" "14" "32329509" "32329512" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:38" "NUBPL_000046" "g.32329509_32329512del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017425" "" "0000017426" "0" "00" "14" "32329531" "32329534" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-04 04:00:39" "NUBPL_000047" "g.32329531_32329534del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017426" "" "0000017427" "0" "00" "14" "32329532" "32329534" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:43" "NUBPL_000048" "g.32329532_32329534del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017427" "" "0000017428" "0" "00" "14" "32329534" "32329534" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:46" "NUBPL_000049" "g.32329534del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017428" "" "0000017429" "0" "55" "14" "32329535" "32329536" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:48" "NUBPL_000050" "g.32329535_32329536insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017429" "" "0000017430" "0" "00" "14" "32329536" "32329537" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:51" "NUBPL_000051" "g.32329536_32329537insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017430" "" "0000017431" "0" "55" "14" "32329537" "32329537" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:54" "NUBPL_000052" "g.32329537G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017431" "" "0000017432" "0" "55" "14" "32329646" "32329646" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:57" "NUBPL_000053" "g.32329646T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017432" "" "0000017433" "0" "33" "14" "32329837" "32329837" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:52" "NUBPL_000036" "g.32329837C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017433" "" "0000017434" "0" "55" "14" "32329995" "32329995" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:55" "NUBPL_000037" "g.32329995G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017434" "" "0000017435" "0" "55" "14" "32330005" "32330005" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:58" "NUBPL_000038" "g.32330005C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017435" "" "0000017436" "0" "11" "14" "32330071" "32330071" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:01" "NUBPL_000039" "g.32330071A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017436" "" "0000017437" "0" "11" "14" "32330080" "32330080" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-07 09:41:07" "NUBPL_000005" "g.32330080G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017437" "" "0000017438" "0" "55" "14" "32330159" "32330159" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:33" "NUBPL_000006" "g.32330159A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017438" "" "0000017439" "0" "55" "14" "32330162" "32330162" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-11-28 03:19:30" "NUBPL_000007" "g.32330162G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017439" "" "0000017440" "0" "55" "14" "32330226" "32330226" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-27 16:42:34" "NUBPL_000008" "g.32330226A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017440" "" "0000017441" "0" "11" "14" "32330260" "32330260" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-27 16:42:34" "NUBPL_000009" "g.32330260A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017441" "" "0000017442" "0" "33" "14" "32330274" "32330274" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:49" "NUBPL_000010" "g.32330274G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017442" "" "0000017443" "0" "55" "14" "32330422" "32330422" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:52" "NUBPL_000011" "g.32330422A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017443" "" "0000024797" "0" "00" "14" "32030647" "32030647" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:51:02" "NUBPL_000076" "g.32030647T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024798" "0" "00" "14" "32068552" "32068552" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 22:31:04" "NUBPL_000075" "g.32068552A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024799" "0" "00" "14" "32257065" "32257065" "subst" "35" "0.00463275" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:17:46" "NUBPL_000077" "g.32257065A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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. ## Count = 145 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000000533" "00000227" "99" "166" "0" "166" "0" "c.166G>A" "2/6" "p.(Gly56Arg)" "r.(?)" "unknown(0)" "" "missense_variant" "" "" "deleterious(0)" "0000000534" "00000227" "99" "313" "0" "313" "0" "c.313G>T" "4/10" "p.(Asp105Tyr)" "r.(?)" "probably_damaging(1)" "" "missense_variant,NMD_transcript_variant" "" "" "deleterious(0)" "0000000534" "00000228" "99" "25" "0" "25" "0" "c.25G>T" "2/9" "" "" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000535" "00000227" "00" "514" "-14" "514" "-14" "c.514-14T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000535" "00000228" "00" "226" "-14" "226" "-14" "c.226-14T>C" "" "" "" "" "" "" "" "" "-" "0000000536" "00000227" "99" "815" "-27" "815" "-27" "c.815-27T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000536" "00000228" "99" "527" "-27" "527" "-27" "c.527-27T>C" "" "" "" "" "" "" "" "" "-" "0000017371" "00000227" "00" "-39" "0" "-39" "0" "c.-39G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017372" "00000227" "00" "-25" "0" "-25" "0" "c.-25A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017373" "00000227" "00" "-13" "0" "-13" "0" "c.-13A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017374" "00000227" "00" "-7" "0" "-7" "0" "c.-7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017375" "00000227" "00" "-1" "0" "-1" "0" "c.-1C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017376" "00000227" "00" "46" "0" "46" "0" "c.46C>T" "" "p.(Arg16Trp)" "r.(?)" "" "" "" "" "" "-" "0000017377" "00000227" "00" "77" "0" "77" "0" "c.77G>T" "" "p.(Gly26Val)" "r.(?)" "" "" "" "" "" "-" "0000017378" "00000227" "00" "109" "-11" "109" "-11" "c.109-11A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017379" "00000227" "00" "162" "0" "162" "0" "c.162C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017380" "00000227" "00" "166" "0" "166" "0" "c.166G>A" "" "p.(Gly56Arg)" "r.(?)" "" "" "" "" "" "-" "0000017381" "00000227" "00" "199" "0" "199" "0" "c.199A>G" "" "p.(Lys67Glu)" "r.(?)" "" "" "" "" "" "-" "0000017382" "00000227" "00" "285" "0" "285" "0" "c.285C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017383" "00000227" "00" "286" "0" "286" "0" "c.286G>A" "" "p.(Asp96Asn)" "r.(?)" "" "" "" "" "" "-" "0000017384" "00000227" "00" "311" "0" "311" "0" "c.311T>C" "" "p.(Leu104Pro)" "r.(?)" "" "" "" "" "" "-" "0000017384" "00000228" "00" "23" "0" "23" "0" "c.23T>C" "" "p.(Leu8Pro)" "r.(?)" "" "" "" "" "" "-" "0000017385" "00000227" "00" "313" "0" "313" "0" "c.313G>T" "" "p.(Asp105Tyr)" "r.(?)" "" "" "" "" "" "-" "0000017385" "00000228" "00" "25" "0" "25" "0" "c.25G>T" "" "p.(Asp9Tyr)" "r.(?)" "" "" "" "" "" "-" "0000017386" "00000227" "00" "369" "0" "369" "0" "c.369G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017386" "00000228" "00" "81" "0" "81" "0" "c.81G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017387" "00000227" "00" "383" "0" "383" "0" "c.383G>A" "" "p.(Ser128Asn)" "r.(?)" "" "" "" "" "" "-" "0000017387" "00000228" "00" "95" "0" "95" "0" "c.95G>A" "" "p.(Ser32Asn)" "r.(?)" "" "" "" "" "" "-" "0000017388" "00000227" "00" "384" "0" "384" "0" "c.384C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017388" "00000228" "00" "96" "0" "96" "0" "c.96C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017389" "00000227" "00" "488" "0" "488" "0" "c.488C>T" "" "p.(Ser163Leu)" "r.(?)" "" "" "" "" "" "-" "0000017389" "00000228" "00" "200" "0" "200" "0" "c.200C>T" "" "p.(Ser67Leu)" "r.(?)" "" "" "" "" "" "-" "0000017390" "00000227" "00" "545" "0" "545" "0" "c.545T>C" "" "p.(Val182Ala)" "r.(?)" "" "" "" "" "" "-" "0000017390" "00000228" "00" "257" "0" "257" "0" "c.257T>C" "" "p.(Val86Ala)" "r.(?)" "" "" "" "" "" "-" "0000017391" "00000227" "00" "573" "0" "573" "0" "c.573G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017391" "00000228" "00" "285" "0" "285" "0" "c.285G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017392" "00000227" "00" "579" "0" "579" "0" "c.579A>C" "" "p.(Leu193Phe)" "r.(?)" "" "" "" "" "" "-" "0000017392" "00000228" "00" "291" "0" "291" "0" "c.291A>C" "" "p.(Leu97Phe)" "r.(?)" "" "" "" "" "" "-" "0000017393" "00000227" "00" "603" "0" "603" "0" "c.603A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017393" "00000228" "00" "315" "0" "315" "0" "c.315A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017394" "00000227" "00" "639" "0" "639" "0" "c.639C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017394" "00000228" "00" "351" "0" "351" "0" "c.351C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017395" "00000227" "00" "661" "0" "662" "0" "c.661_662insGTGCTGCCTT" "" "p.(Glu223Alafs*4)" "r.(?)" "" "" "" "" "" "-" "0000017395" "00000228" "00" "373" "0" "374" "0" "c.373_374insGTGCTGCCTT" "" "p.(Glu127Alafs*4)" "r.(?)" "" "" "" "" "" "-" "0000017396" "00000227" "00" "677" "0" "677" "0" "c.677G>A" "" "p.(Arg226His)" "r.(?)" "" "" "" "" "" "-" "0000017396" "00000228" "00" "389" "0" "389" "0" "c.389G>A" "" "p.(Arg130His)" "r.(?)" "" "" "" "" "" "-" "0000017397" "00000227" "00" "685" "0" "685" "0" "c.685C>T" "" "p.(His229Tyr)" "r.(?)" "" "" "" "" "" "-" "0000017397" "00000228" "00" "397" "0" "397" "0" "c.397C>T" "" "p.(His133Tyr)" "r.(?)" "" "" "" "" "" "-" "0000017398" "00000227" "00" "693" "1" "693" "1" "c.693+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017398" "00000228" "00" "405" "1" "405" "1" "c.405+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017399" "00000227" "00" "815" "-27" "815" "-27" "c.815-27T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017399" "00000228" "00" "527" "-27" "527" "-27" "c.527-27T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017400" "00000227" "00" "894" "0" "894" "0" "c.894T>A" "" "p.(Asp298Glu)" "r.(?)" "" "" "" "" "" "-" "0000017400" "00000228" "00" "606" "0" "606" "0" "c.606T>A" "" "p.(Asp202Glu)" "r.(?)" "" "" "" "" "" "-" "0000017401" "00000227" "00" "1082" "0" "1082" "0" "c.*122G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017401" "00000228" "00" "794" "0" "794" "0" "c.*122G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017402" "00000227" "00" "1095" "0" "1095" "0" "c.*135T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017402" "00000228" "00" "807" "0" "807" "0" "c.*135T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017403" "00000227" "00" "1148" "0" "1148" "0" "c.*188T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017403" "00000228" "00" "860" "0" "860" "0" "c.*188T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017404" "00000227" "00" "1233" "0" "1233" "0" "c.*273C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017404" "00000228" "00" "945" "0" "945" "0" "c.*273C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017405" "00000227" "00" "1272" "0" "1272" "0" "c.*312G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017405" "00000228" "00" "984" "0" "984" "0" "c.*312G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017406" "00000227" "00" "1315" "0" "1315" "0" "c.*355T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017406" "00000228" "00" "1027" "0" "1027" "0" "c.*355T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017407" "00000227" "00" "1317" "0" "1317" "0" "c.*357C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017407" "00000228" "00" "1029" "0" "1029" "0" "c.*357C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017408" "00000227" "00" "1404" "0" "1404" "0" "c.*444C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017408" "00000228" "00" "1116" "0" "1116" "0" "c.*444C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017409" "00000227" "00" "1487" "0" "1487" "0" "c.*527G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017409" "00000228" "00" "1199" "0" "1199" "0" "c.*527G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017410" "00000227" "00" "1496" "0" "1497" "0" "c.*536_*537insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017410" "00000228" "00" "1208" "0" "1209" "0" 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"c.*1149_*1150insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017430" "00000227" "00" "2110" "0" "2111" "0" "c.*1150_*1151insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017430" "00000228" "00" "1822" "0" "1823" "0" "c.*1150_*1151insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017431" "00000227" "00" "2111" "0" "2111" "0" "c.*1151G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017431" "00000228" "00" "1823" "0" "1823" "0" "c.*1151G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017432" "00000227" "00" "2220" "0" "2220" "0" "c.*1260T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017432" "00000228" "00" "1932" "0" "1932" "0" "c.*1260T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017433" "00000227" "00" "2411" "0" "2411" "0" "c.*1451C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017433" "00000228" "00" "2123" "0" "2123" "0" "c.*1451C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017434" "00000227" "00" "2569" "0" "2569" "0" "c.*1609G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017434" "00000228" "00" "2281" "0" "2281" "0" "c.*1609G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017435" "00000227" "00" "2579" "0" "2579" "0" "c.*1619C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017435" "00000228" "00" "2291" "0" "2291" "0" "c.*1619C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017436" "00000227" "00" "2645" "0" "2645" "0" "c.*1685A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017436" "00000228" "00" "2357" "0" "2357" "0" "c.*1685A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017437" "00000227" "00" "2654" "0" "2654" "0" "c.*1694G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017437" "00000228" "00" "2366" "0" "2366" "0" "c.*1694G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017438" "00000227" "00" "2733" "0" "2733" "0" "c.*1773A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017438" "00000228" "00" "2445" "0" "2445" "0" "c.*1773A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017439" "00000227" "00" "2736" "0" "2736" "0" "c.*1776G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017439" "00000228" "00" "2448" "0" "2448" "0" "c.*1776G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017440" "00000227" "00" "2800" "0" "2800" "0" "c.*1840A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017440" "00000228" "00" "2512" "0" "2512" "0" "c.*1840A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017441" "00000227" "00" "2834" "0" "2834" "0" "c.*1874A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017441" "00000228" "00" "2546" "0" "2546" "0" "c.*1874A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017442" "00000227" "00" "2848" "0" "2848" "0" "c.*1888G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017442" "00000228" "00" "2560" "0" "2560" "0" "c.*1888G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017443" "00000227" "00" "2996" "0" "2996" "0" "c.*2036A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017443" "00000228" "00" "2708" "0" "2708" "0" "c.*2036A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024797" "00000227" "00" "2" "0" "2" "0" "c.2T>C" "" "p.?" "r.?" "" "" "" "" "" "-" "0000024798" "00000227" "00" "349" "0" "349" "0" "c.349A>G" "" "p.(Met117Val)" "r.(?)" "" "" "" "" "" "-" "0000024798" "00000228" "00" "61" "0" "61" "0" "c.61A>G" "" "p.(Met21Val)" "r.(?)" "" "" "" "" "" "-" "0000024799" "00000227" "00" "593" "0" "593" "0" "c.593A>C" "" "p.(Asn198Thr)" "r.(?)" "" "" "" "" "" "-" "0000024799" "00000228" "00" "305" "0" "305" "0" "c.305A>C" "" "p.(Asn102Thr)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0