### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A12) # 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}}" "SLC25A12" "solute carrier family 25 (aspartate/glutamate carrier), member 12" "2" "q24" "unknown" "NC_000002.11" "UD_134408536798" "" "" "" "1" "1" "10982" "8604" "603667" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "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}}" "00001147" "SLC25A12" "transcript variant 2" "001" "NR_047549.1" "" "" "" "" "" "1" "3882" "3882" "172750816" "172639915" "00001" "2013-11-12 21:56:20" "" "" "" "2" "00001148" "SLC25A12" "transcript variant 1" "002" "NM_003705.4" "" "NP_003696.2" "" "" "" "-92" "3906" "2037" "172750816" "172639915" "00001" "2013-11-12 21:56:20" "" "" "" "2" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00107" "612949" "Hypomyelination, global cerebral, 612949 (3)" "612949" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC25A12" "00107" ## 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 = 41 "{{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}}" "0000000842" "0" "99" "2" "172644147" "172644147" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-13 11:58:57" "SLC25A12_000001" "g.172644147T>C" "" "{PMID:19641205:19641205}" "" "rs121434396" "subst" "0" "; clinVar; Ensembl;" "4.960" "" "" "" "" "MSCV_0000842" "" "0000002779" "0" "77" "2" "172712480" "172712480" "subst" "35" "0.776872" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-08-14 18:41:24" "SLC25A12_000002" "g.172712480T>C" "" "" "" "rs2056202" "subst" "0" "; ensembl;" "4.710" "" "" "" "" "MSCV_0002779" "" "0000019294" "0" "55" "2" "172640231" "172640231" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:51:51" "SLC25A12_000008" "g.172640231A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019294" "" "0000019295" "0" "55" "2" "172640503" "172640503" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:51:53" "SLC25A12_000009" "g.172640503C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019295" "" "0000019296" "0" "55" "2" "172640533" "172640533" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:51:55" "SLC25A12_000010" "g.172640533T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019296" "" "0000019297" "0" "33" "2" "172640623" "172640623" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:51:57" "SLC25A12_000011" "g.172640623A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019297" "" "0000019298" "0" "33" "2" "172640734" "172640734" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:51:59" "SLC25A12_000012" "g.172640734C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019298" "" "0000019299" "0" "55" "2" "172640789" "172640789" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-18 17:27:32" "SLC25A12_000013" "g.172640789C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019299" "" "0000019300" "0" "55" "2" "172640790" "172640790" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:03" "SLC25A12_000014" "g.172640790G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019300" "" "0000019301" "0" "55" "2" "172640796" "172640796" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:05" "SLC25A12_000015" "g.172640796G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019301" "" "0000019302" "0" "55" "2" "172640819" "172640819" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:07" "SLC25A12_000016" "g.172640819T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019302" "" "0000019303" "0" "55" "2" "172641030" "172641030" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:09" "SLC25A12_000017" "g.172641030G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019303" "" "0000019304" "0" "33" "2" "172641045" "172641045" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:11" "SLC25A12_000018" "g.172641045C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019304" "" "0000019305" "0" "55" "2" "172641090" "172641090" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:13" "SLC25A12_000019" "g.172641090C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019305" "" "0000019306" "0" "55" "2" "172641619" "172641619" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-08 23:22:31" "SLC25A12_000020" "g.172641619G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019306" "" "0000019307" "0" "55" "2" "172641660" "172641660" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:18" "SLC25A12_000021" "g.172641660C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019307" "" "0000019308" "0" "55" "2" "172641712" "172641712" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:20" "SLC25A12_000022" "g.172641712A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019308" "" "0000019309" "0" "55" "2" "172641887" "172641887" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:22" "SLC25A12_000023" "g.172641887G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019309" "" "0000019310" "0" "55" "2" "172641912" "172641912" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-08 23:22:31" "SLC25A12_000024" "g.172641912C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019310" "" "0000019311" "0" "99" "2" "172644147" "172644147" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:26" "SLC25A12_000001" "g.172644147T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000842" "" "0000019312" "0" "55" "2" "172644378" "172644378" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:28" "SLC25A12_000007" "g.172644378C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019312" "" "0000019313" "0" "77" "2" "172644425" "172644425" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:31" "SLC25A12_000025" "g.172644425C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019313" "" "0000019314" "0" "55" "2" "172648078" "172648078" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:34" "SLC25A12_000004" "g.172648078G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019314" "" "0000019315" "0" "77" "2" "172648088" "172648088" "subst" "35" "0.0036906" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:36" "SLC25A12_000005" "g.172648088C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019315" "" "0000019316" "0" "77" "2" "172650165" "172650165" "subst" "35" "0.0327541" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:38" "SLC25A12_000026" "g.172650165C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019316" "" "0000019317" "0" "77" "2" "172650245" "172650245" "subst" "35" "0.00584346" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:41" "SLC25A12_000027" "g.172650245T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019317" "" "0000019318" "0" "99" "2" "172669962" "172669962" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:52:43" "SLC25A12_000028" "g.172669962C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019318" "" "0000019319" "0" "55" "2" "172671686" "172671686" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:44:26" "SLC25A12_000037" "g.172671686G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019319" "" "0000019320" "0" "55" "2" "172691251" "172691251" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:12:40" "SLC25A12_000035" "g.172691251A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019320" "" "0000019321" "0" "77" "2" "172691260" "172691260" "subst" "35" "0.0122251" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:12:42" "SLC25A12_000036" "g.172691260C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019321" "" "0000019322" "0" "55" "2" "172691329" "172691329" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:12:45" "SLC25A12_000006" "g.172691329T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019322" "" "0000019323" "0" "33" "2" "172693780" "172693780" "subst" "35" "0.204829" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:07:06" "SLC25A12_000033" "g.172693780G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019323" "" "0000019324" "0" "55" "2" "172725211" "172725211" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:07:09" "SLC25A12_000003" "g.172725211T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019324" "" "0000019325" "0" "11" "2" "172725301" "172725301" "subst" "35" "0.814701" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:07:12" "SLC25A12_000034" "g.172725301A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019325" "" "0000019326" "0" "55" "2" "172749768" "172749768" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:18:06" "SLC25A12_000029" "g.172749768C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019326" "" "0000019327" "0" "55" "2" "172750721" "172750721" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:18:08" "SLC25A12_000030" "g.172750721C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019327" "" "0000019328" "0" "55" "2" "172750779" "172750779" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:18:10" "SLC25A12_000031" "g.172750779G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019328" "" "0000019329" "0" "00" "2" "172750779" "172750780" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:18:12" "SLC25A12_000032" "g.172750779_172750780insGC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019329" "" "0000025777" "0" "00" "2" "172644389" "172644389" "subst" "35" "0.000384438" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:16:12" "SLC25A12_000040" "g.172644389C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025778" "0" "00" "2" "172725275" "172725275" "subst" "35" "0.000153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:16:39" "SLC25A12_000039" "g.172725275C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025779" "0" "00" "2" "172725339" "172725339" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:46:07" "SLC25A12_000038" "g.172725339A>T" "" "" "" "" "" "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 = 82 "{{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}}" "0000000842" "00001147" "99" "1745" "0" "1745" "0" "n.1745A>G" "16/17" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000842" "00001148" "99" "1769" "0" "1769" "0" "c.1769A>G" "17/18" "p.(Gln590Arg)" "r.(?)" "probably_damaging(0.962)" "" "missense_variant" "" "" "deleterious(0.01)" "0000002779" "00001147" "77" "302" "-11462" "302" "-11462" "n.302-11462A>G" "" "" "" "" "" "" "" "" "-" "0000002779" "00001148" "77" "210" "-21" "210" "-21" "c.210-21A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019294" "00001147" "00" "3566" "0" "3566" "0" "n.3566T>C" "" "" "" "" "" "" "" "" "-" "0000019294" "00001148" "00" "3590" "0" "3590" "0" "c.*1553T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019295" "00001147" "00" "3294" "0" "3294" "0" "n.3294G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019295" "00001148" "00" "3318" "0" "3318" "0" "c.*1281G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019296" "00001147" "00" "3264" "0" "3264" "0" "n.3264A>G" "" "" "" "" "" "" "" "" "-" "0000019296" "00001148" "00" "3288" "0" "3288" "0" "c.*1251A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019297" "00001147" "00" "3174" "0" "3174" "0" "n.3174T>C" "" "" "" "" "" "" "" "" "-" "0000019297" "00001148" "00" "3198" "0" "3198" "0" "c.*1161T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019298" "00001147" "00" "3063" "0" "3063" "0" "n.3063G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019298" "00001148" "00" "3087" "0" "3087" "0" "c.*1050G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019299" "00001147" "00" "3008" "0" "3008" "0" "n.3008G>A" "" "" "" "" "" "" "" "" "-" "0000019299" "00001148" "00" "3032" "0" "3032" "0" "c.*995G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019300" "00001147" "00" "3007" "0" "3007" "0" "n.3007C>T" "" "" "" "" "" "" "" "" "-" "0000019300" "00001148" "00" "3031" "0" "3031" "0" "c.*994C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019301" "00001147" "00" "3001" "0" "3001" "0" "n.3001C>T" "" "" "" "" "" "" "" "" "-" "0000019301" "00001148" "00" "3025" "0" "3025" "0" "c.*988C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019302" "00001147" "00" "2978" "0" "2978" "0" "n.2978A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019302" "00001148" "00" "3002" "0" "3002" "0" "c.*965A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019303" "00001147" "00" "2767" "0" "2767" "0" "n.2767C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019303" "00001148" "00" "2791" "0" "2791" "0" "c.*754C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019304" "00001147" "00" "2752" "0" "2752" "0" "n.2752G>C" "" "" "" "" "" "" "" "" "-" "0000019304" "00001148" "00" "2776" "0" "2776" "0" "c.*739G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019305" "00001147" "00" "2707" "0" "2707" "0" "n.2707G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019305" "00001148" "00" "2731" "0" "2731" "0" "c.*694G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019306" "00001147" "00" "2178" "0" "2178" "0" "n.2178C>T" "" "" "" "" "" "" "" "" "-" "0000019306" "00001148" "00" "2202" "0" "2202" "0" "c.*165C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019307" "00001147" "00" "2137" "0" "2137" "0" "n.2137G>A" "" "" "" "" "" "" "" "" "-" "0000019307" "00001148" "00" "2161" "0" "2161" "0" "c.*124G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019308" "00001147" "00" "2085" "0" "2085" "0" "n.2085T>A" "" "" "" "" "" "" "" "" "-" "0000019308" "00001148" "00" "2109" "0" "2109" "0" "c.*72T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019309" "00001147" "00" "1910" "0" "1910" "0" "n.1910C>T" "" "" "" "" "" "" "" "" "-" "0000019309" "00001148" "00" "1934" "0" "1934" "0" "c.1934C>T" "" "p.(Thr645Met)" "r.(?)" "" "" "" "" "" "-" "0000019310" "00001147" "00" "1885" "0" "1885" "0" "n.1885G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019310" "00001148" "00" "1909" "0" "1909" "0" "c.1909G>A" "" "p.(Gly637Ser)" "r.(?)" "" "" "" "" "" "-" "0000019311" "00001147" "00" "1745" "0" "1745" "0" "n.1745A>G" "" "" "" "" "" "" "" "" "-" "0000019311" "00001148" "00" "1769" "0" "1769" "0" "c.1769A>G" "" "p.(Gln590Arg)" "r.(?)" "" "" "" "" "" "-" "0000019312" "00001147" "00" "1641" "0" "1641" "0" "n.1641G>A" "" "" "" "" "" "" "" "" "-" "0000019312" "00001148" "00" "1665" "0" "1665" "0" "c.1665G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019313" "00001147" "00" "1594" "0" "1594" "0" "n.1594G>A" "" "" "" "" "" "" "" "" "-" "0000019313" "00001148" "00" "1618" "0" "1618" "0" "c.1618G>A" "" "p.(Asp540Asn)" "r.(?)" "" "" "" "" "" "-" "0000019314" "00001147" "00" "1444" "0" "1444" "0" "n.1444C>T" "" "p.(Pro482Ser)" "r.(?)" "" "" "" "" "" "-" "0000019314" "00001148" "00" "1468" "0" "1468" "0" "c.1468C>T" "" "p.(Arg490*)" "r.(?)" "" "" "" "" "" "-" "0000019315" "00001147" "00" "1434" "0" "1434" "0" "n.1434G>A" "" "" "" "" "" "" "" "" "-" "0000019315" "00001148" "00" "1458" "0" "1458" "0" "c.1458G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019316" "00001147" "00" "1394" "0" "1394" "0" "n.1394G>A" "" "p.(Gly465Glu)" "r.(?)" "" "" "" "" "" "-" "0000019316" "00001148" "00" "1418" "0" "1418" "0" "c.1418G>A" "" "p.(Arg473Gln)" "r.(?)" "" "" "" "" "" "-" "0000019317" "00001147" "00" "1314" "0" "1314" "0" "n.1314A>C" "" "p.(Arg438Ser)" "r.(?)" "" "" "" "" "" "-" "0000019317" "00001148" "00" "1338" "0" "1338" "0" "c.1338A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019318" "00001147" "00" "1034" "0" "1034" "0" "n.1034G>A" "" "" "" "" "" "" "" "" "-" "0000019318" "00001148" "00" "1058" "0" "1058" "0" "c.1058G>A" "" "p.(Arg353Gln)" "r.(?)" "" "" "" "" "" "-" "0000019319" "00001147" "00" "933" "0" "933" "0" "n.933C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019319" "00001148" "00" "957" "0" "957" "0" "c.957C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019320" "00001147" "00" "713" "0" "713" "0" "n.713T>C" "" "" "" "" "" "" "" "" "-" "0000019320" "00001148" "00" "737" "0" "737" "0" "c.737T>C" "" "p.(Val246Ala)" "r.(?)" "" "" "" "" "" "-" "0000019321" "00001147" "00" "704" "0" "704" "0" "n.704G>A" "" "" "" "" "" "" "" "" "-" "0000019321" "00001148" "00" "728" "0" "728" "0" "c.728G>A" "" "p.(Arg243Lys)" "r.(?)" "" "" "" "" "" "-" "0000019322" "00001147" "00" "635" "0" "635" "0" "n.635A>G" "" "" "" "" "" "" "" "" "-" "0000019322" "00001148" "00" "659" "0" "659" "0" "c.659A>G" "" "p.(Asn220Ser)" "r.(?)" "" "" "" "" "" "-" "0000019323" "00001147" "00" "442" "-3" "442" "-3" "n.442-3C>T" "" "" "" "" "" "" "" "" "-" "0000019323" "00001148" "00" "466" "-3" "466" "-3" "c.466-3C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019324" "00001147" "00" "281" "0" "281" "0" "n.281A>G" "" "p.(Asn94Ser)" "r.(?)" "" "" "" "" "" "-" "0000019324" "00001148" "00" "189" "0" "189" "0" "c.189A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019325" "00001147" "00" "191" "0" "191" "0" "n.191T>C" "" "" "" "" "" "" "" "" "-" "0000019325" "00001148" "00" "99" "0" "99" "0" "c.99T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019326" "00001147" "00" "105" "0" "105" "0" "n.105G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019326" "00001148" "00" "13" "0" "13" "0" "c.13G>A" "" "p.(Val5Met)" "r.(?)" "" "" "" "" "" "-" "0000019327" "00001147" "00" "96" "0" "96" "0" "n.96G>A" "" "" "" "" "" "" "" "" "-" "0000019327" "00001148" "00" "4" "0" "4" "0" "c.4G>A" "" "p.(Ala2Thr)" "r.(?)" "" "" "" "" "" "-" "0000019328" "00001147" "00" "38" "0" "38" "0" "n.38C>T" "" "" "" "" "" "" "" "" "-" "0000019328" "00001148" "00" "-55" "0" "-55" "0" "c.-55C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019329" "00001147" "00" "37" "0" "38" "0" "n.37_38insGC" "" "p.(Ile13Serfs*58)" "r.(?)" "" "" "" "" "" "-" "0000019329" "00001148" "00" "-56" "0" "-55" "0" "c.-56_-55insGC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025777" "00001147" "00" "1630" "0" "1630" "0" "n.1630G>A" "" "" "" "" "" "" "" "" "-" "0000025777" "00001148" "00" "1654" "0" "1654" "0" "c.1654G>A" "" "p.(Ala552Thr)" "r.(?)" "" "" "" "" "" "-" "0000025778" "00001147" "00" "217" "0" "217" "0" "n.217G>A" "" "" "" "" "" "" "" "" "-" "0000025778" "00001148" "00" "125" "0" "125" "0" "c.125G>A" "" "p.(Arg42His)" "r.(?)" "" "" "" "" "" "-" "0000025779" "00001147" "00" "159" "-6" "159" "-6" "n.159-6T>A" "" "" "" "" "" "" "" "" "-" "0000025779" "00001148" "00" "67" "-6" "67" "-6" "c.67-6T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0