### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MTO1) # 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}}" "MTO1" "mitochondrial tRNA translation optimization 1" "6" "q14.1" "unknown" "NC_000006.11" "UD_132465114050" "" "" "" "1" "1" "19261" "25821" "614667" "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 = 3 "{{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}}" "00000178" "MTO1" "mitochondrial translation optimization 1 homolog (S. cerevisiae), transcript variant 1" "001" "NM_133645.2" "" "NP_598400.1" "" "" "" "-124" "2875" "2154" "74171454" "74211179" "00001" "2013-11-07 13:55:11" "" "" "" "6" "00000179" "MTO1" "mitochondrial translation optimization 1 homolog (S. cerevisiae), transcript variant 3" "002" "NM_001123226.1" "" "NP_001116698.1" "" "" "" "-124" "2920" "2199" "74171454" "74211179" "00001" "2013-11-07 13:55:11" "" "" "" "6" "00000180" "MTO1" "mitochondrial translation optimization 1 homolog (S. cerevisiae), transcript variant 2" "003" "NM_012123.3" "" "NP_036255.2" "" "" "" "-124" "2800" "2079" "74171454" "74211179" "00001" "2013-11-07 13:55:11" "" "" "" "6" ## 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}}" "00093" "COXPD10" "Combined oxidative phosphorylation deficiency 10, 614702 (3)" "614702" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MTO1" "00093" ## 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 = 52 "{{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}}" "0000001189" "0" "99" "6" "74190500" "74190500" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-13 00:00:03" "MTO1_000001" "g.74190500C>T" "" "{PMID:23929671:23929671}" "" "rs398122419" "subst" "0" "; clinvar;" "4.750" "" "" "" "" "MSCV_0001189" "" "0000001190" "0" "00" "6" "74190766" "74190766" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:04:35" "MTO1_000002" "g.74190766C>T" "" "" "" "NA" "subst" "0" ";" "-0.607" "" "" "" "" "MSCV_0001190" "" "0000001191" "0" "00" "6" "74190816" "74190816" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:04:36" "MTO1_000003" "g.74190816G>A" "" "" "" "NA" "subst" "0" ";" "-1.650" "" "" "" "" "MSCV_0001191" "" "0000001192" "0" "99" "6" "74191784" "74191784" "subst" "35" "0.00030755" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-01-31 21:33:28" "MTO1_000004" "g.74191784G>A" "" "{PMID:22608499:22608499};{PMID:23929671:23929671}" "" "rs143747297" "subst" "0" "; clinvar; ensembl;" "5.480" "" "" "" "" "MSCV_0001192" "" "0000001193" "0" "99" "6" "74191932" "74191932" "subst" "35" "0.00030755" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-03-01 05:45:19" "MTO1_000005" "g.74191932G>A" "" "{PMID:23929671:23929671}" "" "rs201544686" "subst" "0" "; clinvar;" "5.480" "" "" "" "" "MSCV_0001193" "" "0000001194" "0" "55" "6" "74207515" "74207516" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-12 22:02:42" "MTO1_000006" "g.74207515_74207516insA" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0001194" "" "0000001195" "0" "55" "6" "74207559" "74207560" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:04:39" "MTO1_000007" "g.74207559_74207560insA" "" "{PMID:22608499:22608499}" "" "rs397518449" "ins" "0" ";" "" "" "" "" "" "MSCV_0001195" "" "0000021692" "0" "55" "6" "74171638" "74171638" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:53:00" "MTO1_000040" "g.74171638C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021692" "" "0000021693" "0" "55" "6" "74171647" "74171647" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-13 02:15:43" "MTO1_000038" "g.74171647C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021693" "" "0000021694" "0" "11" "6" "74171753" "74171753" "subst" "35" "0.000153894" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:51:20" "MTO1_000039" "g.74171753G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021694" "" "0000021695" "0" "33" "6" "74175966" "74175966" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:44:27" "MTO1_000036" "g.74175966C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021695" "" "0000021696" "0" "55" "6" "74183099" "74183099" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:44:30" "MTO1_000037" "g.74183099A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021696" "" "0000021697" "0" "33" "6" "74183172" "74183172" "subst" "35" "0.00392127" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-27 07:43:34" "MTO1_000033" "g.74183172C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021697" "" "0000021698" "0" "33" "6" "74189551" "74189551" "subst" "51" "0.00261418" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-27 16:02:41" "MTO1_000034" "g.74189551A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021698" "" "0000021699" "0" "77" "6" "74189567" "74189567" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:29:58" "MTO1_000035" "g.74189567G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021699" "" "0000021700" "0" "77" "6" "74189683" "74189683" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-27 16:35:39" "MTO1_000027" "g.74189683A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021700" "" "0000021701" "0" "55" "6" "74189703" "74189703" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:20:00" "MTO1_000028" "g.74189703G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021701" "" "0000021702" "0" "33" "6" "74189771" "74189771" "subst" "35" "0.00392127" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:20:03" "MTO1_000029" "g.74189771A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021702" "" "0000021703" "0" "33" "6" "74189782" "74189782" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:20:06" "MTO1_000030" "g.74189782A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021703" "" "0000021704" "0" "33" "6" "74189802" "74189802" "subst" "35" "0.000615101" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-11-11 16:25:08" "MTO1_000031" "g.74189802T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021704" "" "0000021705" "0" "33" "6" "74189806" "74189806" "subst" "35" "0.0030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-01-17 01:00:34" "MTO1_000032" "g.74189806C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021705" "" "0000021706" "0" "33" "6" "74190402" "74190402" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:36" "MTO1_000008" "g.74190402C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021706" "" "0000021707" "0" "55" "6" "74190462" "74190462" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-06 18:24:02" "MTO1_000009" "g.74190462G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021707" "" "0000021708" "0" "55" "6" "74190490" "74190490" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:42" "MTO1_000010" "g.74190490A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021708" "" "0000021709" "0" "99" "6" "74190500" "74190500" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:45" "MTO1_000001" "g.74190500C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001189" "" "0000021710" "0" "55" "6" "74190719" "74190719" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:48" "MTO1_000011" "g.74190719G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021710" "" "0000021711" "0" "55" "6" "74190721" "74190721" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:50" "MTO1_000012" "g.74190721C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021711" "" "0000021712" "0" "77" "6" "74191758" "74191758" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:53" "MTO1_000013" "g.74191758T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021712" "" "0000021713" "0" "77" "6" "74191784" "74191784" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-01-31 22:48:49" "MTO1_000004" "g.74191784G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001192" "" "0000021714" "0" "55" "6" "74191793" "74191793" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:59" "MTO1_000014" "g.74191793C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021714" "" "0000021715" "0" "11" "6" "74191870" "74191870" "subst" "35" "0.00515147" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-10-30 21:43:24" "MTO1_000015" "g.74191870T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021715" "" "0000021716" "0" "77" "6" "74191931" "74191931" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:05" "MTO1_000016" "g.74191931C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021716" "" "0000021717" "0" "99" "6" "74191932" "74191932" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:09" "MTO1_000005" "g.74191932G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001193" "" "0000021718" "0" "77" "6" "74191952" "74191952" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-13 02:52:23" "MTO1_000017" "g.74191952C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021718" "" "0000021719" "0" "33" "6" "74192255" "74192255" "subst" "35" "0.00199908" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:16" "MTO1_000018" "g.74192255G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021719" "" "0000021720" "0" "55" "6" "74202036" "74202036" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-27 16:02:41" "MTO1_000019" "g.74202036A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021720" "" "0000021721" "0" "11" "6" "74207487" "74207487" "subst" "35" "0.00838075" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:24" "MTO1_000020" "g.74207487A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021721" "" "0000021722" "0" "33" "6" "74207529" "74207529" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:28" "MTO1_000021" "g.74207529A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021722" "" "0000021723" "0" "99" "6" "74207559" "74207560" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-25 07:14:56" "MTO1_000007" "g.74207559_74207560insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001195" "" "0000021724" "0" "11" "6" "74207596" "74207596" "subst" "35" "0.00738121" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:34" "MTO1_000022" "g.74207596C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021724" "" "0000021725" "0" "11" "6" "74210290" "74210290" "subst" "35" "0.0460557" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-12 21:48:02" "MTO1_000023" "g.74210290T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021725" "" "0000021726" "0" "33" "6" "74210335" "74210335" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-01 18:38:42" "MTO1_000024" "g.74210335C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021726" "" "0000021727" "0" "55" "6" "74210415" "74210415" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:44" "MTO1_000025" "g.74210415A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021727" "" "0000021728" "0" "33" "6" "74210443" "74210443" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:53" "MTO1_000026" "g.74210443A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021728" "" "0000026526" "0" "00" "6" "74183175" "74183175" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:06:40" "MTO1_000047" "g.74183175A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026527" "0" "00" "6" "74189548" "74189548" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:06:57" "MTO1_000048" "g.74189548G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026528" "0" "00" "6" "74191841" "74191841" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:45:45" "MTO1_000045" "g.74191841A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026529" "0" "00" "6" "74192186" "74192186" "subst" "35" "0.000153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:45:59" "MTO1_000046" "g.74192186G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026530" "0" "00" "6" "74207524" "74207524" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:42:45" "MTO1_000041" "g.74207524del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026531" "0" "00" "6" "74210313" "74210313" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:43:00" "MTO1_000042" "g.74210313G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026532" "0" "00" "6" "74210319" "74210319" "subst" "35" "0.000615101" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:43:15" "MTO1_000043" "g.74210319C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026533" "0" "00" "6" "74210375" "74210375" "subst" "35" "0.000153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:43:32" "MTO1_000044" "g.74210375C>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 = 156 "{{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}}" "0000001189" "00000178" "99" "1307" "0" "1307" "0" "c.1307C>T" "8/13" "p.(Thr436Ile)" "r.(?)" "probably_damaging(0.98)" "" "missense_variant" "" "" "deleterious(0)" "0000001189" "00000179" "99" "1232" "0" "1232" "0" "c.1232C>T" "7/13" "p.(Thr411Ile)" "r.(?)" "probably_damaging(0.966)" "" "missense_variant" "" "" "deleterious(0)" "0000001189" "00000180" "99" "1232" "0" "1232" "0" "c.1232C>T" "7/13" "p.(Thr411Ile)" "r.(?)" "probably_damaging(0.966)" "" "missense_variant" "" "" "deleterious(0)" "0000001190" "00000178" "00" "1335" "238" "1335" "238" "c.1335+238C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001190" "00000179" "00" "1307" "0" "1307" "0" "c.1307C>T" "8/13" "p.(Ser436Phe)" "r.(?)" "unknown(0)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001190" "00000180" "00" "1260" "238" "1260" "238" "c.1260+238C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001191" "00000178" "00" "1335" "288" "1335" "288" "c.1335+288G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001191" "00000179" "00" "1357" "0" "1357" "0" "c.1357G>A" "8/13" "p.(Ala453Thr)" "r.(?)" "unknown(0)" "" "missense_variant" "" "" "tolerated(0.08)" "0000001191" "00000180" "00" "1260" "288" "1260" "288" "c.1260+288G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001192" "00000178" "99" "1357" "0" "1357" "0" "c.1357G>A" "9/13" "p.(Ala453Thr)" "r.(?)" "probably_damaging(0.977)" "" "missense_variant" "" "" "deleterious(0)" "0000001192" "00000179" "99" "1402" "0" "1402" "0" "c.1402G>A" "9/13" "p.(Ala468Thr)" "r.(?)" "probably_damaging(0.961)" "" "missense_variant" "" "" "deleterious(0)" "0000001192" "00000180" "99" "1282" "0" "1282" "0" "c.1282G>A" "8/12" "p.(Ala428Thr)" "r.(?)" "probably_damaging(0.977)" "" "missense_variant" "" "" "deleterious(0)" "0000001193" "00000178" "99" "1505" "0" "1505" "0" "c.1505G>A" "9/13" "p.(Arg502His)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000001193" "00000179" "99" "1550" "0" "1550" "0" "c.1550G>A" "9/13" "p.(Arg517His)" "r.(?)" "probably_damaging(0.979)" "" "missense_variant" "" "" "deleterious(0)" "0000001193" "00000180" "99" "1430" "0" "1430" "0" "c.1430G>A" "8/12" "p.(Arg477His)" "r.(?)" "probably_damaging(0.987)" "" "missense_variant" "" "" "deleterious(0)" "0000001194" "00000178" "55" "1888" "0" "1889" "0" "c.1888_1889insA" "12/13" "p.(Asp630Glufs*2)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001194" "00000179" "55" "1933" "0" "1934" "0" "c.1933_1934insA" "12/13" "p.(Asp645Glufs*2)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001194" "00000180" "55" "1813" "0" "1814" "0" "c.1813_1814insA" "11/12" "p.(Asp605Glufs*2)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001195" "00000178" "55" "1932" "0" "1933" "0" "c.1932_1933insA" "12/13" "p.(Arg645Lysfs*8)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001195" "00000179" "55" "1977" "0" "1978" "0" "c.1977_1978insA" "12/13" "p.(Arg660Lysfs*8)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001195" "00000180" "55" "1857" "0" "1858" "0" "c.1857_1858insA" "11/12" "p.(Arg620Lysfs*8)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000021692" "00000178" "00" "61" "0" "61" "0" "c.61C>T" "" "p.(Pro21Ser)" "r.(?)" "" "" "" "" "" "-" "0000021692" "00000179" "00" "61" "0" "61" "0" "c.61C>T" "" "p.(Pro21Ser)" "r.(?)" "" "" "" "" "" "-" "0000021692" "00000180" "00" "61" "0" "61" "0" "c.61C>T" "" "p.(Pro21Ser)" "r.(?)" "" "" "" "" "" "-" "0000021693" "00000178" "00" "70" "0" "70" "0" "c.70C>T" "" "p.(Arg24Trp)" "r.(?)" "" "" "" "" "" "-" "0000021693" "00000179" "00" "70" "0" "70" "0" "c.70C>T" "" "p.(Arg24Trp)" "r.(?)" "" "" "" "" "" "-" "0000021693" "00000180" "00" "70" "0" "70" "0" "c.70C>T" "" "p.(Arg24Trp)" "r.(?)" "" "" "" "" "" "-" "0000021694" "00000178" "00" "176" "0" "176" "0" "c.176G>C" "" "p.(Gly59Ala)" "r.(?)" "" "" "" "" "" "-" "0000021694" "00000179" "00" "176" "0" "176" "0" "c.176G>C" "" "p.(Gly59Ala)" "r.(?)" "" "" "" "" "" "-" "0000021694" "00000180" "00" "176" "0" "176" "0" "c.176G>C" "" "p.(Gly59Ala)" "r.(?)" "" "" "" "" "" "-" "0000021695" "00000178" "00" "252" "0" "252" "0" "c.252C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021695" "00000179" "00" "252" "0" "252" "0" "c.252C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021695" "00000180" "00" "252" "0" "252" "0" "c.252C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021696" "00000178" "00" "547" "0" "547" "0" "c.547A>G" "" "p.(Thr183Ala)" "r.(?)" "" "" "" "" "" "-" "0000021696" "00000179" "00" "547" "0" "547" "0" "c.547A>G" "" "p.(Thr183Ala)" "r.(?)" "" "" "" "" "" "-" "0000021696" "00000180" "00" "547" "0" "547" "0" "c.547A>G" "" "p.(Thr183Ala)" "r.(?)" "" "" "" "" "" "-" "0000021697" "00000178" "00" "620" "0" "620" "0" "c.620C>T" "" "p.(Thr207Met)" "r.(?)" "" "" "" "" "" "-" "0000021697" "00000179" "00" "620" "0" "620" "0" "c.620C>T" "" "p.(Thr207Met)" "r.(?)" "" "" "" "" "" "-" "0000021697" "00000180" "00" "620" "0" "620" "0" "c.620C>T" "" "p.(Thr207Met)" "r.(?)" "" "" "" "" "" "-" "0000021698" "00000178" "00" "922" "0" "922" "0" "c.922A>G" "" "p.(Thr308Ala)" "r.(?)" "" "" "" "" "" "-" "0000021698" "00000179" "00" "922" "0" "922" "0" "c.922A>G" "" "p.(Thr308Ala)" "r.(?)" "" "" "" "" "" "-" "0000021698" "00000180" "00" "922" "0" "922" "0" "c.922A>G" "" "p.(Thr308Ala)" "r.(?)" "" "" "" "" "" "-" "0000021699" "00000178" "00" "938" "0" "938" "0" "c.938G>A" "" "p.(Arg313Gln)" "r.(?)" "" "" "" "" "" "-" "0000021699" "00000179" "00" "938" "0" "938" "0" "c.938G>A" "" "p.(Arg313Gln)" "r.(?)" "" "" "" "" "" "-" "0000021699" "00000180" "00" "938" "0" "938" "0" "c.938G>A" "" "p.(Arg313Gln)" "r.(?)" "" "" "" "" "" "-" "0000021700" "00000178" "00" "963" "0" "963" "0" "c.963A>C" "" "p.(Lys321Asn)" "r.(?)" "" "" "" "" "" "-" "0000021700" "00000179" "00" "963" "0" "963" "0" "c.963A>C" "" "p.(Lys321Asn)" "r.(?)" "" "" "" "" "" "-" "0000021700" "00000180" "00" "963" "0" "963" "0" "c.963A>C" "" "p.(Lys321Asn)" "r.(?)" "" "" "" "" "" "-" "0000021701" "00000178" "00" "983" "0" "983" "0" "c.983G>A" "" "p.(Arg328His)" "r.(?)" "" "" "" "" "" "-" "0000021701" "00000179" "00" "983" "0" "983" "0" "c.983G>A" "" "p.(Arg328His)" "r.(?)" "" "" "" "" "" "-" "0000021701" "00000180" "00" "983" "0" "983" "0" "c.983G>A" "" "p.(Arg328His)" "r.(?)" "" "" "" "" "" "-" "0000021702" "00000178" "00" "1051" "0" "1051" "0" "c.1051A>G" "" "p.(Met351Val)" "r.(?)" "" "" "" "" "" "-" "0000021702" "00000179" "00" "1051" "0" "1051" "0" "c.1051A>G" "" "p.(Met351Val)" "r.(?)" "" "" "" "" "" "-" "0000021702" "00000180" "00" "1051" "0" "1051" "0" "c.1051A>G" "" "p.(Met351Val)" "r.(?)" "" "" "" "" "" "-" "0000021703" "00000178" "00" "1062" "0" "1062" "0" "c.1062A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021703" "00000179" "00" "1062" "0" "1062" "0" "c.1062A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021703" "00000180" "00" "1062" "0" "1062" "0" "c.1062A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021704" "00000178" "00" "1082" "0" "1082" "0" "c.1082T>C" "" "p.(Met361Thr)" "r.(?)" "" "" "" "" "" "-" "0000021704" "00000179" "00" "1082" "0" "1082" "0" "c.1082T>C" "" "p.(Met361Thr)" "r.(?)" "" "" "" "" "" "-" "0000021704" "00000180" "00" "1082" "0" "1082" "0" "c.1082T>C" "" "p.(Met361Thr)" "r.(?)" "" "" "" "" "" "-" "0000021705" "00000178" "00" "1086" "0" "1086" "0" "c.1086C>G" "" "p.(Ile362Met)" "r.(?)" "" "" "" "" "" "-" "0000021705" "00000179" "00" "1086" "0" "1086" "0" "c.1086C>G" "" "p.(Ile362Met)" "r.(?)" "" "" "" "" "" "-" "0000021705" "00000180" "00" "1086" "0" "1086" "0" "c.1086C>G" "" "p.(Ile362Met)" "r.(?)" "" "" "" "" "" "-" "0000021706" "00000178" "00" "1209" "0" "1209" "0" "c.1209C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021706" "00000179" "00" "1134" "0" "1134" "0" "c.1134C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021706" "00000180" "00" "1134" "0" "1134" "0" "c.1134C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021707" "00000178" "00" "1269" "0" "1269" "0" "c.1269G>T" "" "p.(Leu423Phe)" "r.(?)" "" "" "" "" "" "-" "0000021707" "00000179" "00" "1194" "0" "1194" "0" "c.1194G>T" "" "p.(Leu398Phe)" "r.(?)" "" "" "" "" "" "-" "0000021707" "00000180" "00" "1194" "0" "1194" "0" "c.1194G>T" "" "p.(Leu398Phe)" "r.(?)" "" "" "" "" "" "-" "0000021708" "00000178" "00" "1297" "0" "1297" "0" "c.1297A>G" "" "p.(Ile433Val)" "r.(?)" "" "" "" "" "" "-" "0000021708" "00000179" "00" "1222" "0" "1222" "0" "c.1222A>G" "" "p.(Ile408Val)" "r.(?)" "" "" "" "" "" "-" "0000021708" "00000180" "00" "1222" "0" "1222" "0" "c.1222A>G" "" "p.(Ile408Val)" "r.(?)" "" "" "" "" "" "-" "0000021709" "00000178" "00" "1307" "0" "1307" "0" "c.1307C>T" "" "p.(Thr436Ile)" "r.(?)" "" "" "" "" "" "-" "0000021709" "00000179" "00" "1232" "0" "1232" "0" "c.1232C>T" "" "p.(Thr411Ile)" "r.(?)" "" "" "" "" "" "-" "0000021709" "00000180" "00" "1232" "0" "1232" "0" "c.1232C>T" "" "p.(Thr411Ile)" "r.(?)" "" "" "" "" "" "-" "0000021710" "00000178" "00" "1335" "191" "1335" "191" "c.1335+191G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021710" "00000179" "00" "1261" "-1" "1261" "-1" "c.1261-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021710" "00000180" "00" "1260" "191" "1260" "191" "c.1260+191G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021711" "00000178" "00" "1335" "193" "1335" "193" "c.1335+193C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021711" "00000179" "00" "1262" "0" "1262" "0" "c.1262C>A" "" "p.(Thr421Lys)" "r.(?)" "" "" "" "" "" "-" "0000021711" "00000180" "00" "1260" "193" "1260" "193" "c.1260+193C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021712" "00000178" "00" "1336" "-5" "1336" "-5" "c.1336-5T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021712" "00000179" "00" "1381" "-5" "1381" "-5" "c.1381-5T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021712" "00000180" "00" "1261" "-5" "1261" "-5" "c.1261-5T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021713" "00000178" "00" "1357" "0" "1357" "0" "c.1357G>A" "" "p.(Ala453Thr)" "r.(?)" "" "" "" "" "" "-" "0000021713" "00000179" "00" "1402" "0" "1402" "0" "c.1402G>A" "" "p.(Ala468Thr)" "r.(?)" "" "" "" "" "" "-" "0000021713" "00000180" "00" "1282" "0" "1282" "0" "c.1282G>A" "" "p.(Ala428Thr)" "r.(?)" "" "" "" "" "" "-" "0000021714" "00000178" "00" "1366" "0" "1366" "0" "c.1366C>T" "" "p.(Arg456Trp)" "r.(?)" "" "" "" "" "" "-" "0000021714" "00000179" "00" "1411" "0" "1411" "0" "c.1411C>T" "" "p.(Arg471Trp)" "r.(?)" "" "" "" "" "" "-" "0000021714" "00000180" "00" "1291" "0" "1291" "0" "c.1291C>T" "" "p.(Arg431Trp)" "r.(?)" "" "" "" "" "" "-" "0000021715" "00000178" "00" "1443" "0" "1443" "0" "c.1443T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021715" "00000179" "00" "1488" "0" "1488" "0" "c.1488T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021715" "00000180" "00" "1368" "0" "1368" "0" "c.1368T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021716" "00000178" "00" "1504" "0" "1504" "0" "c.1504C>T" "" "p.(Arg502Cys)" "r.(?)" "" "" "" "" "" "-" "0000021716" "00000179" "00" "1549" "0" "1549" "0" "c.1549C>T" "" "p.(Arg517Cys)" "r.(?)" "" "" "" "" "" "-" "0000021716" "00000180" "00" "1429" "0" "1429" "0" "c.1429C>T" "" "p.(Arg477Cys)" "r.(?)" "" "" "" "" "" "-" "0000021717" "00000178" "00" "1505" "0" "1505" "0" "c.1505G>A" "" "p.(Arg502His)" "r.(?)" "" "" "" "" "" "-" "0000021717" "00000179" "00" "1550" "0" "1550" "0" "c.1550G>A" "" "p.(Arg517His)" "r.(?)" "" "" "" "" "" "-" "0000021717" "00000180" "00" "1430" "0" "1430" "0" "c.1430G>A" "" "p.(Arg477His)" "r.(?)" "" "" "" "" "" "-" "0000021718" "00000178" "00" "1525" "0" "1525" "0" "c.1525C>T" "" "p.(Arg509Trp)" "r.(?)" "" "" "" "" "" "-" "0000021718" "00000179" "00" "1570" "0" "1570" "0" "c.1570C>T" "" "p.(Arg524Trp)" "r.(?)" "" "" "" "" "" "-" "0000021718" "00000180" "00" "1450" "0" "1450" "0" "c.1450C>T" "" "p.(Arg484Trp)" "r.(?)" "" "" "" "" "" "-" "0000021719" "00000178" "00" "1624" "0" "1624" "0" "c.1624G>A" "" "p.(Val542Met)" "r.(?)" "" "" "" "" "" "-" "0000021719" "00000179" "00" "1669" "0" "1669" "0" "c.1669G>A" "" "p.(Val557Met)" "r.(?)" "" "" "" "" "" "-" "0000021719" "00000180" "00" "1549" "0" "1549" "0" "c.1549G>A" "" "p.(Val517Met)" "r.(?)" "" "" "" "" "" "-" "0000021720" "00000178" "00" "1792" "0" "1792" "0" "c.1792A>T" "" "p.(Thr598Ser)" "r.(?)" "" "" "" "" "" "-" "0000021720" "00000179" "00" "1837" "0" "1837" "0" "c.1837A>T" "" "p.(Thr613Ser)" "r.(?)" "" "" "" "" "" "-" "0000021720" "00000180" "00" "1717" "0" "1717" "0" "c.1717A>T" "" "p.(Thr573Ser)" "r.(?)" "" "" "" "" "" "-" "0000021721" "00000178" "00" "1860" "0" "1860" "0" "c.1860A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021721" "00000179" "00" "1905" "0" "1905" "0" "c.1905A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021721" "00000180" "00" "1785" "0" "1785" "0" "c.1785A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021722" "00000178" "00" "1902" "0" "1902" "0" "c.1902A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021722" "00000179" "00" "1947" "0" "1947" "0" "c.1947A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021722" "00000180" "00" "1827" "0" "1827" "0" "c.1827A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021723" "00000178" "00" "1932" "0" "1933" "0" "c.1932_1933insA" "" "p.(Arg645Lysfs*8)" "r.(?)" "" "" "" "" "" "-" "0000021723" "00000179" "00" "1977" "0" "1978" "0" "c.1977_1978insA" "" "p.(Arg660Lysfs*8)" "r.(?)" "" "" "" "" "" "-" "0000021723" "00000180" "00" "1857" "0" "1858" "0" "c.1857_1858insA" "" "p.(Arg620Lysfs*8)" "r.(?)" "" "" "" "" "" "-" "0000021724" "00000178" "00" "1969" "0" "1969" "0" "c.1969C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021724" "00000179" "00" "2014" "0" "2014" "0" "c.2014C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021724" "00000180" "00" "1894" "0" "1894" "0" "c.1894C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021725" "00000178" "00" "1993" "-7" "1993" "-7" "c.1993-7T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021725" "00000179" "00" "2038" "-7" "2038" "-7" "c.2038-7T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021725" "00000180" "00" "1918" "-7" "1918" "-7" "c.1918-7T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021726" "00000178" "00" "2031" "0" "2031" "0" "c.2031C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021726" "00000179" "00" "2076" "0" "2076" "0" "c.2076C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021726" "00000180" "00" "1956" "0" "1956" "0" "c.1956C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021727" "00000178" "00" "2111" "0" "2111" "0" "c.2111A>G" "" "p.(Gln704Arg)" "r.(?)" "" "" "" "" "" "-" "0000021727" "00000179" "00" "2156" "0" "2156" "0" "c.2156A>G" "" "p.(Gln719Arg)" "r.(?)" "" "" "" "" "" "-" "0000021727" "00000180" "00" "2036" "0" "2036" "0" "c.2036A>G" "" "p.(Gln679Arg)" "r.(?)" "" "" "" "" "" "-" "0000021728" "00000178" "00" "2139" "0" "2139" "0" "c.2139A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021728" "00000179" "00" "2184" "0" "2184" "0" "c.2184A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021728" "00000180" "00" "2064" "0" "2064" "0" "c.2064A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026526" "00000178" "00" "623" "0" "623" "0" "c.623A>G" "" "p.(His208Arg)" "r.(?)" "" "" "" "" "" "-" "0000026526" "00000179" "00" "623" "0" "623" "0" "c.623A>G" "" "p.(His208Arg)" "r.(?)" "" "" "" "" "" "-" "0000026526" "00000180" "00" "623" "0" "623" "0" "c.623A>G" "" "p.(His208Arg)" "r.(?)" "" "" "" "" "" "-" "0000026527" "00000178" "00" "919" "0" "919" "0" "c.919G>A" "" "p.(Glu307Lys)" "r.(?)" "" "" "" "" "" "-" "0000026527" "00000179" "00" "919" "0" "919" "0" "c.919G>A" "" "p.(Glu307Lys)" "r.(?)" "" "" "" "" "" "-" "0000026527" "00000180" "00" "919" "0" "919" "0" "c.919G>A" "" "p.(Glu307Lys)" "r.(?)" "" "" "" "" "" "-" "0000026528" "00000178" "00" "1414" "0" "1414" "0" "c.1414A>G" "" "p.(Ile472Val)" "r.(?)" "" "" "" "" "" "-" "0000026528" "00000179" "00" "1459" "0" "1459" "0" "c.1459A>G" "" "p.(Ile487Val)" "r.(?)" "" "" "" "" "" "-" "0000026528" "00000180" "00" "1339" "0" "1339" "0" "c.1339A>G" "" "p.(Ile447Val)" "r.(?)" "" "" "" "" "" "-" "0000026529" "00000178" "00" "1555" "0" "1555" "0" "c.1555G>A" "" "p.(Gly519Ser)" "r.(?)" "" "" "" "" "" "-" "0000026529" "00000179" "00" "1600" "0" "1600" "0" "c.1600G>A" "" "p.(Gly534Ser)" "r.(?)" "" "" "" "" "" "-" "0000026529" "00000180" "00" "1480" "0" "1480" "0" "c.1480G>A" "" "p.(Gly494Ser)" "r.(?)" "" "" "" "" "" "-" "0000026530" "00000178" "00" "1897" "0" "1897" "0" "c.1897del" "" "p.(Leu633Serfs*7)" "r.(?)" "" "" "" "" "" "-" "0000026530" "00000179" "00" "1942" "0" "1942" "0" "c.1942del" "" "p.(Leu648Serfs*7)" "r.(?)" "" "" "" "" "" "-" "0000026530" "00000180" "00" "1822" "0" "1822" "0" "c.1822del" "" "p.(Leu608Serfs*7)" "r.(?)" "" "" "" "" "" "-" "0000026531" "00000178" "00" "2009" "0" "2009" "0" "c.2009G>A" "" "p.(Arg670His)" "r.(?)" "" "" "" "" "" "-" "0000026531" "00000179" "00" "2054" "0" "2054" "0" "c.2054G>A" "" "p.(Arg685His)" "r.(?)" "" "" "" "" "" "-" "0000026531" "00000180" "00" "1934" "0" "1934" "0" "c.1934G>A" "" "p.(Arg645His)" "r.(?)" "" "" "" "" "" "-" "0000026532" "00000178" "00" "2015" "0" "2015" "0" "c.2015C>T" "" "p.(Pro672Leu)" "r.(?)" "" "" "" "" "" "-" "0000026532" "00000179" "00" "2060" "0" "2060" "0" "c.2060C>T" "" "p.(Pro687Leu)" "r.(?)" "" "" "" "" "" "-" "0000026532" "00000180" "00" "1940" "0" "1940" "0" "c.1940C>T" "" "p.(Pro647Leu)" "r.(?)" "" "" "" "" "" "-" "0000026533" "00000178" "00" "2071" "0" "2071" "0" "c.2071C>T" "" "p.(Arg691*)" "r.(?)" "" "" "" "" "" "-" "0000026533" "00000179" "00" "2116" "0" "2116" "0" "c.2116C>T" "" "p.(Arg706*)" "r.(?)" "" "" "" "" "" "-" "0000026533" "00000180" "00" "1996" "0" "1996" "0" "c.1996C>T" "" "p.(Arg666*)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0