### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SURF1) # 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}}" "SURF1" "surfeit 1" "9" "q33-q34" "unknown" "NC_000009.11" "UD_138385442247" "" "" "" "1" "1" "11474" "6834" "185620" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; 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}}" "00000317" "SURF1" "transcript variant 2" "001" "NM_001280787.1" "" "NP_001267716.1" "" "" "" "-307" "684" "576" "136223361" "136218660" "00001" "2013-11-07 14:00:25" "" "" "" "9" "00000318" "SURF1" "transcript variant 1" "002" "NM_003172.3" "" "NP_003163.1" "" "" "" "-32" "1011" "903" "136223361" "136218660" "00001" "2013-11-07 14:00:25" "" "" "" "9" ## 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}}" "00012" "220110" "Mitochondrial complex IV deficiency, 220110 (3)" "220110" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SURF1" "00012" ## 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 = 54 "{{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}}" "0000003429" "0" "99" "9" "136218929" "136218929" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 14:08:56" "SURF1_000002" "g.136218929A>C" "" "{PMID:10647889:10647889}" "" "rs121918658" "subst" "0" "; clinvar; ensembl;" "5.390" "" "" "" "" "MSCV_0003429" "" "0000003430" "0" "99" "9" "136219301" "136219301" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2020-09-09 00:45:50" "SURF1_000003" "g.136219301G>A" "" "{PMID:9837813:9837813};{PMID:10636738:10636738}" "" "rs121918657" "subst" "0" "; clinvar; ensembl;" "-10.200" "" "" "" "" "MSCV_0003430" "" "0000003431" "0" "99" "9" "136220748" "136220748" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-09-30 07:31:31" "SURF1_000001" "g.136220748C>T" "" "{PMID:10746561:10746561}" "" "rs28933402" "subst" "0" "; clinvar; ensembl;" "4.640" "" "" "" "" "MSCV_0003431" "" "0000022871" "0" "55" "9" "136218778" "136218778" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:55:39" "SURF1_000040" "g.136218778G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022871" "" "0000022872" "0" "33" "9" "136218788" "136218788" "subst" "35" "0.00568968" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:55:41" "SURF1_000041" "g.136218788G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022872" "" "0000022873" "0" "33" "9" "136218792" "136218792" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-17 19:45:13" "SURF1_000012" "g.136218792G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022873" "" "0000022874" "0" "99" "9" "136218929" "136218929" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-05 15:04:33" "SURF1_000002" "g.136218929A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0003429" "" "0000022875" "0" "55" "9" "136218941" "136218941" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-04 23:43:35" "SURF1_000013" "g.136218941C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022875" "" "0000022876" "0" "99" "9" "136218956" "136218957" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-07 05:13:40" "SURF1_000014" "g.136218956_136218957del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022876" "" "0000022877" "0" "99" "9" "136218990" "136218991" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:55" "SURF1_000016" "g.136218990_136218991del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022877" "" "0000022878" "0" "77" "9" "136218989" "136218990" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-06 09:43:17" "SURF1_000015" "g.136218989_136218990insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022878" "" "0000022879" "0" "77" "9" "136218994" "136218995" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-11-12 23:02:57" "SURF1_000017" "g.136218994_136218995del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022879" "" "0000022880" "0" "99" "9" "136218998" "136218998" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-09-06 07:23:29" "SURF1_000018" "g.136218998C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022880" "" "0000022881" "0" "00" "9" "136219000" "136219001" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-04 23:32:51" "SURF1_000019" "g.136219000_136219001insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022881" "" "0000022882" "0" "11" "9" "136219295" "136219295" "subst" "35" "0.013686" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:04" "SURF1_000020" "g.136219295A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022882" "" "0000022883" "0" "99" "9" "136219301" "136219301" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:06" "SURF1_000003" "g.136219301G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0003430" "" "0000022884" "0" "55" "9" "136219316" "136219316" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-04 22:57:23" "SURF1_000021" "g.136219316T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022884" "" "0000022885" "0" "99" "9" "136219364" "136219364" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-07 06:09:58" "SURF1_000022" "g.136219364G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022885" "" "0000022886" "0" "33" "9" "136219365" "136219365" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:13" "SURF1_000023" "g.136219365A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022886" "" "0000022887" "0" "99" "9" "136219373" "136219373" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:15" "SURF1_000024" "g.136219373A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022887" "" "0000022888" "0" "55" "9" "136219409" "136219409" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-04 22:37:51" "SURF1_000025" "g.136219409G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022888" "" "0000022889" "0" "77" "9" "136219420" "136219421" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:19" "SURF1_000026" "g.136219420_136219421del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022889" "" "0000022890" "0" "33" "9" "136219448" "136219448" "subst" "35" "0.000845763" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:21" "SURF1_000027" "g.136219448C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022890" "" "0000022891" "0" "33" "9" "136219449" "136219449" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:23" "SURF1_000028" "g.136219449C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022891" "" "0000022892" "0" "99" "9" "136219551" "136219551" "subst" "35" "0.0000768994" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-06 14:33:59" "SURF1_000029" "g.136219551G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022892" "" "0000022893" "0" "99" "9" "136219563" "136219563" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:28" "SURF1_000030" "g.136219563G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022893" "" "0000022894" "0" "33" "9" "136219564" "136219564" "subst" "35" "0.0542224" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:30" "SURF1_000031" "g.136219564G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022894" "" "0000022895" "0" "33" "9" "136219594" "136219594" "subst" "35" "0.00545986" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-23 22:45:59" "SURF1_000032" "g.136219594G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022895" "" "0000022896" "0" "99" "9" "136220748" "136220748" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-03-13 02:03:33" "SURF1_000001" "g.136220748C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0003431" "" "0000022897" "0" "55" "9" "136220753" "136220753" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-06-09 04:06:03" "SURF1_000033" "g.136220753G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022897" "" "0000022898" "0" "55" "9" "136220767" "136220767" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:55:42" "SURF1_000042" "g.136220767T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022898" "" "0000022899" "0" "55" "9" "136220769" "136220769" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:44:53" "SURF1_000034" "g.136220769T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022899" "" "0000022900" "0" "55" "9" "136220804" "136220805" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-16 08:49:28" "SURF1_000035" "g.136220804_136220805insTCT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022900" "" "0000022901" "0" "99" "9" "136221516" "136221525" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-06 11:38:45" "SURF1_000036" "g.136221516_136221525delinsAT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022901" "" "0000022902" "0" "33" "9" "136221534" "136221534" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:44:59" "SURF1_000037" "g.136221534C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022902" "" "0000022903" "0" "33" "9" "136221557" "136221557" "subst" "35" "0.0468245" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:45:01" "SURF1_000038" "g.136221557A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022903" "" "0000022904" "0" "77" "9" "136221708" "136221708" "subst" "35" "0.000922651" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-13 07:36:52" "SURF1_000039" "g.136221708C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022904" "" "0000022905" "0" "11" "9" "136221752" "136221752" "subst" "35" "0.0126096" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-15 20:49:59" "SURF1_000007" "g.136221752G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022905" "" "0000022906" "0" "55" "9" "136221801" "136221801" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:36" "SURF1_000008" "g.136221801T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022906" "" "0000022907" "0" "77" "9" "136223123" "136223123" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-01 19:21:50" "SURF1_000009" "g.136223123C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022907" "" "0000022908" "0" "33" "9" "136223254" "136223267" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:40" "SURF1_000010" "g.136223254_136223267del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022908" "" "0000022909" "0" "77" "9" "136223266" "136223266" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-06 05:59:35" "SURF1_000011" "g.136223266C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022909" "" "0000022910" "0" "77" "9" "136223267" "136223267" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:19:43" "SURF1_000004" "g.136223267G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022910" "" "0000022911" "0" "99" "9" "136223291" "136223292" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:19:45" "SURF1_000005" "g.136223291_136223292insGCCCGCA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022911" "" "0000022912" "0" "99" "9" "136223317" "136223340" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:19:48" "SURF1_000006" "g.136223317_136223340del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022912" "" "0000026820" "0" "00" "9" "136218915" "136218915" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-01 19:21:49" "SURF1_000049" "g.136218915C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026821" "0" "00" "9" "136218922" "136218923" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:06:44" "SURF1_000050" "g.136218922_136218923insCGATGTACTGCAGATGCT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026822" "0" "00" "9" "136218934" "136218935" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:06:55" "SURF1_000051" "g.136218934_136218935insGATGCTC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026823" "0" "00" "9" "136218977" "136218977" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:14:34" "SURF1_000043" "g.136218977G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026824" "0" "00" "9" "136219307" "136219307" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-08-13 10:08:20" "SURF1_000044" "g.136219307T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026825" "0" "00" "9" "136219548" "136219548" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:14:50" "SURF1_000045" "g.136219548C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026826" "0" "00" "9" "136219605" "136219605" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:01" "SURF1_000046" "g.136219605T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026827" "0" "00" "9" "136220653" "136220654" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:09" "SURF1_000047" "g.136220653_136220654del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026828" "0" "00" "9" "136221734" "136221734" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:17" "SURF1_000048" "g.136221734A>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 = 108 "{{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}}" "0000003429" "00000317" "99" "493" "0" "493" "0" "c.493T>G" "7/8" "p.(Tyr165Asp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000003429" "00000318" "99" "820" "0" "820" "0" "c.820T>G" "8/9" "p.(Tyr274Asp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000003430" "00000317" "99" "424" "0" "424" "0" "c.424C>T" "6/8" "p.(Gln142*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003430" "00000318" "99" "751" "0" "751" "0" "c.751C>T" "7/9" "p.(Gln251*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003431" "00000317" "99" "44" "0" "44" "0" "c.44G>A" "4/8" "p.(Gly15Glu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000003431" "00000318" "99" "371" "0" "371" "0" "c.371G>A" "5/9" "p.(Gly124Glu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000022871" "00000317" "00" "566" "0" "566" "0" "c.566C>G" "" "p.(Pro189Arg)" "r.(?)" "" "" "" "" "" "-" "0000022871" "00000318" "00" "893" "0" "893" "0" "c.893C>G" "" "p.(Pro298Arg)" "r.(?)" "" "" "" "" "" "-" "0000022872" "00000317" "00" "556" "0" "556" "0" "c.556C>T" "" "p.(Arg186Cys)" "r.(?)" "" "" "" "" "" "-" "0000022872" "00000318" "00" "883" "0" "883" "0" "c.883C>T" "" "p.(Arg295Cys)" "r.(?)" "" "" "" "" "" "-" "0000022873" "00000317" "00" "552" "0" "552" "0" "c.552C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022873" "00000318" "00" "879" "0" "879" "0" "c.879C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022874" "00000317" "00" "493" "0" "493" "0" "c.493T>G" "" "p.(Tyr165Asp)" "r.(?)" "" "" "" "" "" "-" "0000022874" "00000318" "00" "820" "0" "820" "0" "c.820T>G" "" "p.(Tyr274Asp)" "r.(?)" "" "" "" "" "" "-" "0000022875" "00000317" "00" "481" "0" "481" "0" "c.481G>A" "" "p.(Glu161Lys)" "r.(?)" "" "" "" "" "" "-" "0000022875" "00000318" "00" "808" "0" "808" "0" "c.808G>A" "" "p.(Glu270Lys)" "r.(?)" "" "" "" "" "" "-" "0000022876" "00000317" "00" "465" "0" "466" "0" "c.465_466del" "" "p.(Arg155Serfs*27)" "r.(?)" "" "" "" "" "" "-" "0000022876" "00000318" "00" "792" "0" "793" "0" "c.792_793del" "" "p.(Arg264Serfs*27)" "r.(?)" "" "" "" "" "" "-" "0000022877" "00000317" "00" "431" "0" "432" "0" "c.431_432del" "" "p.(Thr144Serfs*38)" "r.(?)" "" "" "" "" "" "-" "0000022877" "00000318" "00" "758" "0" "759" "0" "c.758_759del" "" "p.(Thr253Serfs*38)" "r.(?)" "" "" "" "" "" "-" "0000022878" "00000317" "00" "432" "0" "433" "0" "c.432_433insA" "" "p.(Val145Serfs*38)" "r.(?)" "" "" "" "" "" "-" "0000022878" "00000318" "00" "759" "0" "760" "0" "c.759_760insA" "" "p.(Val254Serfs*38)" "r.(?)" "" "" "" "" "" "-" "0000022879" "00000317" "00" "427" "0" "428" "0" "c.427_428del" "" "p.(Ser143Hisfs*39)" "r.(?)" "" "" "" "" "" "-" "0000022879" "00000318" "00" "754" "0" "755" "0" "c.754_755del" "" "p.(Ser252Hisfs*39)" "r.(?)" "" "" "" "" "" "-" "0000022880" "00000317" "00" "425" "-1" "425" "-1" "c.425-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022880" "00000318" "00" "752" "-1" "752" "-1" "c.752-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022881" "00000317" "00" "425" "-4" "425" "-3" "c.425-4_425-3insA" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022881" "00000318" "00" "752" "-4" "752" "-3" "c.752-4_752-3insA" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022882" "00000317" "00" "424" "6" "424" "6" "c.424+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022882" "00000318" "00" "751" "6" "751" "6" "c.751+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022883" "00000317" "00" "424" "0" "424" "0" "c.424C>T" "" "p.(Gln142*)" "r.(?)" "" "" "" "" "" "-" "0000022883" "00000318" "00" "751" "0" "751" "0" "c.751C>T" "" "p.(Gln251*)" "r.(?)" "" "" "" "" "" "-" "0000022884" "00000317" "00" "409" "0" "409" "0" "c.409A>G" "" "p.(Ile137Val)" "r.(?)" "" "" "" "" "" "-" "0000022884" "00000318" "00" "736" "0" "736" "0" "c.736A>G" "" "p.(Ile246Val)" "r.(?)" "" "" "" "" "" "-" "0000022885" "00000317" "00" "361" "0" "361" "0" "c.361C>T" "" "p.(Arg121*)" "r.(?)" "" "" "" "" "" "-" "0000022885" "00000318" "00" "688" "0" "688" "0" "c.688C>T" "" "p.(Arg230*)" "r.(?)" "" "" "" "" "" "-" "0000022886" "00000317" "00" "360" "0" "360" "0" "c.360T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022886" "00000318" "00" "687" "0" "687" "0" "c.687T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022887" "00000317" "00" "352" "0" "352" "0" "c.352T>C" "" "p.(Trp118Arg)" "r.(?)" "" "" "" "" "" "-" "0000022887" "00000318" "00" "679" "0" "679" "0" "c.679T>C" "" "p.(Trp227Arg)" "r.(?)" "" "" "" "" "" "-" "0000022888" "00000317" "00" "316" "0" "316" "0" "c.316C>G" "" "p.(Pro106Ala)" "r.(?)" "" "" "" "" "" "-" "0000022888" "00000318" "00" "643" "0" "643" "0" "c.643C>G" "" "p.(Pro215Ala)" "r.(?)" "" "" "" "" "" "-" "0000022889" "00000317" "00" "304" "0" "305" "0" "c.304_305del" "" "p.(Glu102Asnfs*8)" "r.(?)" "" "" "" "" "" "-" "0000022889" "00000318" "00" "631" "0" "632" "0" "c.631_632del" "" "p.(Glu211Asnfs*8)" "r.(?)" "" "" "" "" "" "-" "0000022890" "00000317" "00" "277" "0" "277" "0" "c.277G>C" "" "p.(Asp93His)" "r.(?)" "" "" "" "" "" "-" "0000022890" "00000318" "00" "604" "0" "604" "0" "c.604G>C" "" "p.(Asp202His)" "r.(?)" "" "" "" "" "" "-" "0000022891" "00000317" "00" "276" "0" "276" "0" "c.276G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022891" "00000318" "00" "603" "0" "603" "0" "c.603G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022892" "00000317" "00" "259" "0" "259" "0" "c.259C>T" "" "p.(Gln87*)" "r.(?)" "" "" "" "" "" "-" "0000022892" "00000318" "00" "586" "0" "586" "0" "c.586C>T" "" "p.(Gln196*)" "r.(?)" "" "" "" "" "" "-" "0000022893" "00000317" "00" "247" "0" "247" "0" "c.247C>T" "" "p.(Arg83Trp)" "r.(?)" "" "" "" "" "" "-" "0000022893" "00000318" "00" "574" "0" "574" "0" "c.574C>T" "" "p.(Arg192Trp)" "r.(?)" "" "" "" "" "" "-" "0000022894" "00000317" "00" "246" "0" "246" "0" "c.246C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022894" "00000318" "00" "573" "0" "573" "0" "c.573C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022895" "00000317" "00" "216" "0" "216" "0" "c.216C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022895" "00000318" "00" "543" "0" "543" "0" "c.543C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022896" "00000317" "00" "44" "0" "44" "0" "c.44G>A" "" "p.(Gly15Glu)" "r.(?)" "" "" "" "" "" "-" "0000022896" "00000318" "00" "371" "0" "371" "0" "c.371G>A" "" "p.(Gly124Glu)" "r.(?)" "" "" "" "" "" "-" "0000022897" "00000317" "00" "39" "0" "39" "0" "c.39C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022897" "00000318" "00" "366" "0" "366" "0" "c.366C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022898" "00000317" "00" "25" "0" "25" "0" "c.25A>T" "" "p.(Arg9Trp)" "r.(?)" "" "" "" "" "" "-" "0000022898" "00000318" "00" "352" "0" "352" "0" "c.352A>T" "" "p.(Arg118Trp)" "r.(?)" "" "" "" "" "" "-" "0000022899" "00000317" "00" "23" "0" "23" "0" "c.23A>C" "" "p.(Tyr8Ser)" "r.(?)" "" "" "" "" "" "-" "0000022899" "00000318" "00" "350" "0" "350" "0" "c.350A>C" "" "p.(Tyr117Ser)" "r.(?)" "" "" "" "" "" "-" "0000022900" "00000317" "00" "-4" "-10" "-4" "-9" "c.-4-10_-4-9insAGA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022900" "00000318" "00" "324" "-10" "324" "-9" "c.324-10_324-9insAGA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022901" "00000317" "00" "-16" "0" "-7" "0" "c.-16_-7delinsAT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022901" "00000318" "00" "312" "0" "321" "0" "c.312_321delinsAT" "" "p.(Leu105*)" "r.(?)" "" "" "" "" "" "-" "0000022902" "00000317" "00" "-25" "0" "-25" "0" "c.-25G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022902" "00000318" "00" "303" "0" "303" "0" "c.303G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022903" "00000317" "00" "-48" "0" "-48" "0" "c.-48T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022903" "00000318" "00" "280" "0" "280" "0" "c.280T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022904" "00000317" "00" "-117" "0" "-117" "0" "c.-117G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022904" "00000318" "00" "211" "0" "211" "0" "c.211G>C" "" "p.(Val71Leu)" "r.(?)" "" "" "" "" "" "-" "0000022905" "00000317" "00" "-161" "0" "-161" "0" "c.-161C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022905" "00000318" "00" "167" "0" "167" "0" "c.167C>G" "" "p.(Ala56Gly)" "r.(?)" "" "" "" "" "" "-" "0000022906" "00000317" "00" "-210" "0" "-210" "0" "c.-210A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022906" "00000318" "00" "118" "0" "118" "0" "c.118A>T" "" "p.(Arg40Trp)" "r.(?)" "" "" "" "" "" "-" "0000022907" "00000317" "00" "-222" "153" "-222" "153" "c.-222+153G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022907" "00000318" "00" "106" "1" "106" "1" "c.106+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022908" "00000317" "00" "-222" "9" "-222" "22" "c.-222+9_-222+22del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022908" "00000318" "00" "54" "9" "54" "22" "c.54+9_54+22del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022909" "00000317" "00" "-222" "10" "-222" "10" "c.-222+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022909" "00000318" "00" "54" "10" "54" "10" "c.54+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022910" "00000317" "00" "-222" "9" "-222" "9" "c.-222+9C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022910" "00000318" "00" "54" "9" "54" "9" "c.54+9C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022911" "00000317" "00" "-238" "0" "-237" "0" "c.-238_-237insTGCGGGC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022911" "00000318" "00" "38" "0" "39" "0" "c.38_39insTGCGGGC" "" "p.(Leu16Glyfs*46)" "r.(?)" "" "" "" "" "" "-" "0000022912" "00000317" "00" "-286" "0" "-263" "0" "c.-286_-263del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022912" "00000318" "00" "-11" "0" "13" "0" "c.-11_13del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000026820" "00000317" "00" "506" "1" "506" "1" "c.506+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026820" "00000318" "00" "833" "1" "833" "1" "c.833+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026821" "00000317" "00" "499" "0" "500" "0" "c.499_500insAGCATCTGCAGTACATCG" "" "p.(Glu161_Ile166dup)" "r.(?)" "" "" "" "" "" "-" "0000026821" "00000318" "00" "826" "0" "827" "0" "c.826_827insAGCATCTGCAGTACATCG" "" "p.(Glu270_Ile275dup)" "r.(?)" "" "" "" "" "" "-" "0000026822" "00000317" "00" "487" "0" "488" "0" "c.487_488insGAGCATC" "" "p.(Leu163Argfs*22)" "r.(?)" "" "" "" "" "" "-" "0000026822" "00000318" "00" "814" "0" "815" "0" "c.814_815insGAGCATC" "" "p.(Leu272Argfs*22)" "r.(?)" "" "" "" "" "" "-" "0000026823" "00000317" "00" "445" "0" "445" "0" "c.445C>T" "" "p.(Pro149Ser)" "r.(?)" "" "" "" "" "" "-" "0000026823" "00000318" "00" "772" "0" "772" "0" "c.772C>T" "" "p.(Pro258Ser)" "r.(?)" "" "" "" "" "" "-" "0000026824" "00000317" "00" "418" "0" "418" "0" "c.418A>G" "" "p.(Asn140Asp)" "r.(?)" "" "" "" "" "" "-" "0000026824" "00000318" "00" "745" "0" "745" "0" "c.745A>G" "" "p.(Asn249Asp)" "r.(?)" "" "" "" "" "" "-" "0000026825" "00000317" "00" "261" "1" "261" "1" "c.261+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026825" "00000318" "00" "588" "1" "588" "1" "c.588+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026826" "00000317" "00" "205" "0" "205" "0" "c.205A>T" "" "p.(Asn69Tyr)" "r.(?)" "" "" "" "" "" "-" "0000026826" "00000318" "00" "532" "0" "532" "0" "c.532A>T" "" "p.(Asn178Tyr)" "r.(?)" "" "" "" "" "" "-" "0000026827" "00000317" "00" "138" "0" "139" "0" "c.138_139del" "" "p.(Thr47Serfs*23)" "r.(?)" "" "" "" "" "" "-" "0000026827" "00000318" "00" "465" "0" "466" "0" "c.465_466del" "" "p.(Thr156Serfs*23)" "r.(?)" "" "" "" "" "" "-" "0000026828" "00000317" "00" "-143" "0" "-143" "0" "c.-143T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026828" "00000318" "00" "185" "0" "185" "0" "c.185T>G" "" "p.(Leu62Arg)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0