### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FARS2) # 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}}" "FARS2" "phenylalanyl-tRNA synthetase 2, mitochondrial" "6" "p25.1" "unknown" "NC_000006.11" "UD_138305338295" "" "" "" "1" "1" "21062" "10667" "611592" "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 13:44:12" "" "" "" "" "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 = 5 "{{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}}" "00000123" "FARS2" "transcript variant X1" "001" "XM_005248811.1" "" "XP_005248868.1" "" "" "" "-362" "1510" "1356" "5261251" "5771816" "00001" "2013-11-07 13:48:32" "" "" "" "6" "00000124" "FARS2" "phenylalanyl-tRNA synthetase 2, mitochondrial" "002" "NM_006567.3" "" "NP_006558.1" "" "" "" "-331" "1510" "1356" "5261584" "5771816" "00001" "2013-11-07 13:48:32" "" "" "" "6" "00000125" "FARS2" "transcript variant X3" "003" "XM_005248813.1" "" "XP_005248870.1" "" "" "" "-331" "1469" "1011" "5261584" "5467356" "00001" "2013-11-07 13:48:32" "" "" "" "6" "00000126" "FARS2" "transcript variant X4" "004" "XM_005248814.1" "" "XP_005248871.1" "" "" "" "-331" "687" "681" "5261584" "5371459" "00001" "2013-11-07 13:48:32" "" "" "" "6" "00000127" "FARS2" "transcript variant X2" "005" "XM_005248812.1" "" "XP_005248869.1" "" "" "" "-85" "1510" "1356" "5272659" "5771816" "00001" "2013-11-07 13:48:32" "" "" "" "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}}" "00094" "COXPD14" "Combined oxidative phosphorylation deficiency 14, 614946 (3)" "614946" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FARS2" "00094" ## 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 = 82 "{{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}}" "0000001162" "0" "99" "6" "5369234" "5369234" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:06:52" "FARS2_000001" "g.5369234A>G" "" "{PMID:22499341:22499341};{PMID:22833457:22833457}" "" "rs397514610" "subst" "0" "; clinVar;" "4.200" "" "" "" "" "MSCV_0001162" "" "0000001163" "0" "99" "6" "5545494" "5545494" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-10 00:50:18" "FARS2_000002" "g.5545494T>C" "" "{PMID:22833457:22833457}" "" "rs397514611" "subst" "0" "; clinVar;" "5.270" "" "" "" "" "MSCV_0001163" "" "0000001164" "0" "99" "6" "5613508" "5613508" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:09:15" "FARS2_000003" "g.5613508A>T" "" "{PMID:22833457:22833457}" "" "rs397514612" "subst" "0" "; clinVar;" "5.530" "" "" "" "" "MSCV_0001164" "" "0000021634" "0" "55" "6" "5368904" "5368904" "subst" "35" "0.000461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:48:46" "FARS2_000038" "g.5368904C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021634" "" "0000021635" "0" "11" "6" "5368905" "5368905" "subst" "35" "0.00984161" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:39:49" "FARS2_000028" "g.5368905G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021635" "" "0000021636" "0" "11" "6" "5368973" "5368973" "subst" "35" "0.00730432" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:40:04" "FARS2_000030" "g.5368973C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021636" "" "0000021637" "0" "11" "6" "5368986" "5368986" "subst" "35" "0.00461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:40:20" "FARS2_000033" "g.5368986C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021637" "" "0000021638" "0" "77" "6" "5368995" "5368995" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:40:39" "FARS2_000035" "g.5368995C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021638" "" "0000021639" "0" "33" "6" "5369127" "5369127" "subst" "51" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-03 01:03:13" "FARS2_000036" "g.5369127G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021639" "" "0000021640" "0" "11" "6" "5369142" "5369142" "subst" "35" "0.0278333" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:41:08" "FARS2_000037" "g.5369142C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021640" "" "0000021641" "0" "55" "6" "5369147" "5369147" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:39:26" "FARS2_000026" "g.5369147A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021641" "" "0000021642" "0" "33" "6" "5369210" "5369210" "subst" "51" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-26 22:44:04" "FARS2_000027" "g.5369210C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021642" "" "0000021643" "0" "55" "6" "5369214" "5369214" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-26 22:44:04" "FARS2_000029" "g.5369214C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021643" "" "0000021644" "0" "77" "6" "5369234" "5369234" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:40:11" "FARS2_000001" "g.5369234A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001162" "" "0000021645" "0" "11" "6" "5369271" "5369271" "subst" "35" "0.00384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:40:26" "FARS2_000034" "g.5369271G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021645" "" "0000021646" "0" "55" "6" "5369300" "5369300" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:34:29" "FARS2_000023" "g.5369300C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021646" "" "0000021647" "0" "77" "6" "5369309" "5369309" "subst" "51" "0.00161464" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-01 03:20:15" "FARS2_000024" "g.5369309A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021647" "" "0000021648" "0" "77" "6" "5369353" "5369353" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:35:06" "FARS2_000025" "g.5369353G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021648" "" "0000021649" "0" "55" "6" "5369366" "5369366" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:54:24" "FARS2_000021" "g.5369366A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021649" "" "0000021650" "0" "33" "6" "5369409" "5369409" "subst" "35" "0.00138398" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:54:39" "FARS2_000022" "g.5369409G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021650" "" "0000021651" "0" "33" "6" "5404771" "5404771" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:49" "FARS2_000013" "g.5404771A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021651" "" "0000021652" "0" "77" "6" "5404829" "5404829" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-05-04 22:42:52" "FARS2_000014" "g.5404829C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021652" "" "0000021653" "0" "33" "6" "5404838" "5404838" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:47:20" "FARS2_000015" "g.5404838C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021653" "" "0000021654" "0" "55" "6" "5404892" "5404892" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:47:52" "FARS2_000016" "g.5404892A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021654" "" "0000021655" "0" "11" "6" "5404899" "5404899" "subst" "35" "0.00476703" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:48:06" "FARS2_000017" "g.5404899C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021655" "" "0000021656" "0" "33" "6" "5404912" "5404912" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-09 23:38:31" "FARS2_000018" "g.5404912C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021656" "" "0000021657" "0" "55" "6" "5404916" "5404916" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:48:34" "FARS2_000019" "g.5404916G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021657" "" "0000021658" "0" "55" "6" "5431282" "5431282" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:48:43" "FARS2_000020" "g.5431282A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021658" "" "0000021659" "0" "77" "6" "5545427" "5545427" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:41:10" "FARS2_000004" "g.5545427C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021659" "" "0000021660" "0" "77" "6" "5545479" "5545479" "subst" "35" "0.000999539" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:41:30" "FARS2_000005" "g.5545479A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021660" "" "0000021661" "0" "99" "6" "5545481" "5545481" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:41:36" "FARS2_000006" "g.5545481G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021661" "" "0000021662" "0" "99" "6" "5545494" "5545494" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:41:41" "FARS2_000002" "g.5545494T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001163" "" "0000021663" "0" "55" "6" "5545517" "5545517" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:41:46" "FARS2_000007" "g.5545517G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021663" "" "0000021664" "0" "55" "6" "5613405" "5613405" "subst" "51" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-24 05:48:55" "FARS2_000008" "g.5613405C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021664" "" "0000021665" "0" "77" "6" "5613418" "5613418" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:41:57" "FARS2_000009" "g.5613418C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021665" "" "0000021666" "0" "00" "6" "5613445" "5613447" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:02" "FARS2_000010" "g.5613445_5613447delinsAACCAGAATGAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021666" "" "0000021667" "0" "77" "6" "5613499" "5613499" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:07" "FARS2_000011" "g.5613499T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021667" "" "0000021668" "0" "99" "6" "5613508" "5613508" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:12" "FARS2_000003" "g.5613508A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001164" "" "0000021669" "0" "33" "6" "5613545" "5613545" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:17" "FARS2_000012" "g.5613545A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021669" "" "0000021670" "0" "77" "6" "5771574" "5771574" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:40:12" "FARS2_000031" "g.5771574G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021670" "" "0000021671" "0" "33" "6" "5771614" "5771614" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:40:17" "FARS2_000032" "g.5771614C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021671" "" "0000026401" "0" "00" "6" "5368824" "5368824" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:20:57" "FARS2_000079" "g.5368824G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026402" "0" "00" "6" "5368831" "5368831" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-10-05 01:59:27" "FARS2_000065" "g.5368831G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026403" "0" "00" "6" "5369056" "5369056" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:45:34" "FARS2_000066" "g.5369056C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026404" "0" "00" "6" "5369113" "5369113" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:46:38" "FARS2_000067" "g.5369113C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026405" "0" "00" "6" "5369135" "5369135" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:47:29" "FARS2_000068" "g.5369135C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026406" "0" "00" "6" "5369157" "5369157" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:48:20" "FARS2_000069" "g.5369157A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026407" "0" "00" "6" "5369193" "5369193" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:50:14" "FARS2_000070" "g.5369193C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026408" "0" "00" "6" "5369206" "5369206" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:52:42" "FARS2_000071" "g.5369206C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026409" "0" "00" "6" "5369229" "5369229" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-08 11:07:17" "FARS2_000072" "g.5369229C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026410" "0" "00" "6" "5369260" "5369260" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:54:32" "FARS2_000073" "g.5369260A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026411" "0" "00" "6" "5369265" "5369265" "subst" "35" "0.000538213" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:55:26" "FARS2_000074" "g.5369265G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026412" "0" "00" "6" "5369270" "5369270" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:56:24" "FARS2_000075" "g.5369270C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026413" "0" "00" "6" "5369279" "5369279" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:57:19" "FARS2_000076" "g.5369279A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026414" "0" "00" "6" "5369333" "5369333" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:53:24" "FARS2_000039" "g.5369333T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026415" "0" "00" "6" "5369381" "5369381" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:54:01" "FARS2_000040" "g.5369381A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026416" "0" "00" "6" "5369388" "5369388" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:54:38" "FARS2_000041" "g.5369388G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026417" "0" "00" "6" "5404764" "5404764" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:55:12" "FARS2_000042" "g.5404764T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026418" "0" "00" "6" "5404800" "5404800" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:55:45" "FARS2_000043" "g.5404800A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026419" "0" "00" "6" "5404868" "5404868" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:56:17" "FARS2_000044" "g.5404868G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026420" "0" "00" "6" "5404910" "5404910" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-03 01:03:28" "FARS2_000045" "g.5404910C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026421" "0" "00" "6" "5404930" "5404930" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:57:23" "FARS2_000046" "g.5404930A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026422" "0" "00" "6" "5431293" "5431293" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-27 05:10:02" "FARS2_000047" "g.5431293del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026423" "0" "00" "6" "5431320" "5431320" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:58:29" "FARS2_000048" "g.5431320T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026424" "0" "00" "6" "5431340" "5431340" "subst" "35" "0.152161" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:59:10" "FARS2_000049" "g.5431340A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026425" "0" "00" "6" "5431340" "5431340" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:59:43" "FARS2_000050" "g.5431340A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026426" "0" "00" "6" "5431374" "5431374" "subst" "35" "0.000153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:00:25" "FARS2_000051" "g.5431374C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026427" "0" "00" "6" "5545412" "5545412" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-30 05:05:15" "FARS2_000077" "g.5545412G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026428" "0" "00" "6" "5545433" "5545433" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:09:24" "FARS2_000059" "g.5545433G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026429" "0" "00" "6" "5545492" "5545492" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:09:53" "FARS2_000060" "g.5545492T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026430" "0" "00" "6" "5545522" "5545522" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:22:46" "FARS2_000052" "g.5545522C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026431" "0" "00" "6" "5545562" "5545562" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:23:08" "FARS2_000053" "g.5545562G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026432" "0" "00" "6" "5613387" "5613387" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:23:30" "FARS2_000054" "g.5613387C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026433" "0" "00" "6" "5613419" "5613419" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:23:51" "FARS2_000055" "g.5613419G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026434" "0" "00" "6" "5613430" "5613430" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:24:13" "FARS2_000056" "g.5613430A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026435" "0" "00" "6" "5613481" "5613481" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-04 17:15:50" "FARS2_000057" "g.5613481A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026436" "0" "00" "6" "5613492" "5613492" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:24:56" "FARS2_000058" "g.5613492C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026437" "0" "00" "6" "5771526" "5771526" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:19:49" "FARS2_000078" "g.5771526C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026438" "0" "00" "6" "5771573" "5771573" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-27 04:26:03" "FARS2_000061" "g.5771573C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026439" "0" "00" "6" "5771602" "5771602" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:41:55" "FARS2_000062" "g.5771602C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026440" "0" "00" "6" "5771650" "5771650" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:42:26" "FARS2_000063" "g.5771650G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026441" "0" "00" "6" "5771666" "5771666" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:42:55" "FARS2_000064" "g.5771666C>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 = 332 "{{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}}" "0000001162" "00000123" "99" "431" "0" "431" "0" "c.431A>G" "2/7" "p.(Tyr144Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001162" "00000124" "99" "431" "0" "431" "0" "c.431A>G" "2/7" "p.(Tyr144Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001162" "00000125" "99" "431" "0" "431" "0" "c.431A>G" "2/7" "p.(Tyr144Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001162" "00000126" "99" "431" "0" "431" "0" "c.431A>G" "2/7" "p.(Tyr144Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001162" "00000127" "99" "431" "0" "431" "0" "c.431A>G" "2/7" "p.(Tyr144Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001163" "00000123" "99" "986" "0" "986" "0" "c.986T>C" "5/7" "p.(Ile329Thr)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001163" "00000124" "99" "986" "0" "986" "0" "c.986T>C" "5/7" "p.(Ile329Thr)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001163" "00000127" "99" "986" "0" "986" "0" "c.986T>C" "5/7" "p.(Ile329Thr)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001164" "00000123" "99" "1172" "0" "1172" "0" "c.1172A>T" "6/7" "p.(Asp391Val)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000001164" "00000124" "99" "1172" "0" "1172" "0" "c.1172A>T" "6/7" "p.(Asp391Val)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000001164" "00000127" "99" "1172" "0" "1172" "0" "c.1172A>T" "6/7" "p.(Asp391Val)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000021634" "00000123" "00" "101" "0" "101" "0" "c.101C>T" "" "p.(Ser34Leu)" "r.(?)" "" "" "" "" "" "-" "0000021634" "00000124" "00" "101" "0" "101" "0" "c.101C>T" "" "p.(Ser34Leu)" "r.(?)" "" "" "" "" "" "-" "0000021634" "00000125" "00" "101" "0" "101" "0" "c.101C>T" "" "p.(Ser34Leu)" "r.(?)" "" "" "" "" "" "-" "0000021634" "00000126" "00" "101" "0" "101" "0" "c.101C>T" "" "p.(Ser34Leu)" "r.(?)" "" "" "" "" "" "-" "0000021634" "00000127" "00" "101" "0" "101" "0" "c.101C>T" "" "p.(Ser34Leu)" "r.(?)" "" "" "" "" "" "-" "0000021635" "00000123" "00" "102" "0" "102" "0" "c.102G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021635" "00000124" "00" "102" "0" "102" "0" "c.102G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021635" "00000125" "00" "102" "0" "102" "0" "c.102G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021635" "00000126" "00" "102" "0" "102" "0" "c.102G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021635" "00000127" "00" "102" "0" "102" "0" "c.102G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021636" "00000123" "00" "170" "0" "170" "0" "c.170C>G" "" "p.(Ser57Cys)" "r.(?)" "" "" "" "" "" "-" "0000021636" "00000124" "00" "170" "0" "170" "0" "c.170C>G" "" "p.(Ser57Cys)" "r.(?)" "" "" "" "" "" "-" "0000021636" "00000125" "00" "170" "0" "170" "0" "c.170C>G" "" "p.(Ser57Cys)" "r.(?)" "" "" "" "" "" "-" "0000021636" "00000126" "00" "170" "0" "170" "0" "c.170C>G" "" "p.(Ser57Cys)" "r.(?)" "" "" "" "" "" "-" "0000021636" "00000127" "00" "170" "0" "170" "0" "c.170C>G" "" "p.(Ser57Cys)" "r.(?)" "" "" "" "" "" "-" "0000021637" "00000123" "00" "183" "0" "183" "0" "c.183C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021637" "00000124" "00" "183" "0" "183" "0" "c.183C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021637" "00000125" "00" "183" "0" "183" "0" "c.183C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021637" "00000126" "00" "183" "0" "183" "0" "c.183C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021637" "00000127" "00" "183" "0" "183" "0" "c.183C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021638" "00000123" "00" "192" "0" "192" "0" "c.192C>G" "" "p.(Ser64Arg)" "r.(?)" "" "" "" "" "" "-" "0000021638" "00000124" "00" "192" "0" "192" "0" "c.192C>G" "" "p.(Ser64Arg)" "r.(?)" "" "" "" "" "" "-" "0000021638" "00000125" "00" "192" "0" "192" "0" "c.192C>G" "" "p.(Ser64Arg)" "r.(?)" "" "" "" "" "" "-" "0000021638" "00000126" "00" "192" "0" "192" "0" "c.192C>G" "" "p.(Ser64Arg)" "r.(?)" "" "" "" "" "" "-" "0000021638" "00000127" "00" "192" "0" "192" "0" "c.192C>G" "" "p.(Ser64Arg)" "r.(?)" "" "" "" "" "" "-" "0000021639" "00000123" "00" "324" "0" "324" "0" "c.324G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021639" "00000124" "00" "324" "0" "324" "0" "c.324G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021639" "00000125" "00" "324" "0" "324" "0" "c.324G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021639" "00000126" "00" "324" "0" "324" "0" "c.324G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021639" "00000127" "00" "324" "0" "324" "0" "c.324G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021640" "00000123" "00" "339" "0" "339" "0" "c.339C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021640" "00000124" "00" "339" "0" "339" "0" "c.339C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021640" "00000125" "00" "339" "0" "339" "0" "c.339C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021640" "00000126" "00" "339" "0" "339" "0" "c.339C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021640" "00000127" "00" "339" "0" "339" "0" "c.339C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021641" "00000123" "00" "344" "0" "344" "0" "c.344A>G" "" "p.(Asn115Ser)" "r.(?)" "" "" "" "" "" "-" "0000021641" "00000124" "00" "344" "0" "344" "0" "c.344A>G" "" "p.(Asn115Ser)" "r.(?)" "" "" "" "" "" "-" "0000021641" "00000125" "00" "344" "0" "344" "0" "c.344A>G" "" "p.(Asn115Ser)" "r.(?)" "" "" "" "" "" "-" "0000021641" "00000126" "00" "344" "0" "344" "0" "c.344A>G" "" "p.(Asn115Ser)" "r.(?)" "" "" "" "" "" "-" "0000021641" "00000127" "00" "344" "0" "344" "0" "c.344A>G" "" "p.(Asn115Ser)" "r.(?)" "" "" "" "" "" "-" "0000021642" "00000123" "00" "407" "0" "407" "0" "c.407C>A" "" "p.(Pro136His)" "r.(?)" "" "" "" "" "" "-" "0000021642" "00000124" "00" "407" "0" "407" "0" "c.407C>A" "" "p.(Pro136His)" "r.(?)" "" "" "" "" "" "-" "0000021642" "00000125" "00" "407" "0" "407" "0" "c.407C>A" "" "p.(Pro136His)" "r.(?)" "" "" "" "" "" "-" "0000021642" "00000126" "00" "407" "0" "407" "0" "c.407C>A" "" "p.(Pro136His)" "r.(?)" "" "" "" "" "" "-" "0000021642" "00000127" "00" "407" "0" "407" "0" "c.407C>A" "" "p.(Pro136His)" "r.(?)" "" "" "" "" "" "-" "0000021643" "00000123" "00" "411" "0" "411" "0" "c.411C>A" "" "p.(Ser137Arg)" "r.(?)" "" "" "" "" "" "-" "0000021643" "00000124" "00" "411" "0" "411" "0" "c.411C>A" "" "p.(Ser137Arg)" "r.(?)" "" "" "" "" "" "-" "0000021643" "00000125" "00" "411" "0" "411" "0" "c.411C>A" "" "p.(Ser137Arg)" "r.(?)" "" "" "" "" "" "-" "0000021643" "00000126" "00" "411" "0" "411" "0" "c.411C>A" "" "p.(Ser137Arg)" "r.(?)" "" "" "" "" "" "-" "0000021643" "00000127" "00" "411" "0" "411" "0" "c.411C>A" "" "p.(Ser137Arg)" "r.(?)" "" "" "" "" "" "-" "0000021644" "00000123" "00" "431" "0" "431" "0" "c.431A>G" "" "p.(Tyr144Cys)" "r.(?)" "" "" "" "" "" "-" "0000021644" "00000124" "00" "431" "0" "431" "0" "c.431A>G" "" "p.(Tyr144Cys)" "r.(?)" "" "" "" "" "" "-" "0000021644" "00000125" "00" "431" "0" "431" "0" "c.431A>G" "" "p.(Tyr144Cys)" "r.(?)" "" "" "" "" "" "-" "0000021644" "00000126" "00" "431" "0" "431" "0" "c.431A>G" "" "p.(Tyr144Cys)" "r.(?)" "" "" "" "" "" "-" "0000021644" "00000127" "00" "431" "0" "431" "0" "c.431A>G" "" "p.(Tyr144Cys)" "r.(?)" "" "" "" "" "" "-" "0000021645" "00000123" "00" "468" "0" "468" "0" "c.468G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021645" "00000124" "00" "468" "0" "468" "0" "c.468G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021645" "00000125" "00" "468" "0" "468" "0" "c.468G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021645" "00000126" "00" "468" "0" "468" "0" "c.468G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021645" "00000127" "00" "468" "0" "468" "0" "c.468G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021646" "00000123" "00" "497" "0" "497" "0" "c.497C>T" "" "p.(Ala166Val)" "r.(?)" "" "" "" "" "" "-" "0000021646" "00000124" "00" "497" "0" "497" "0" "c.497C>T" "" "p.(Ala166Val)" "r.(?)" "" "" "" "" "" "-" "0000021646" "00000125" "00" "497" "0" "497" "0" "c.497C>T" "" "p.(Ala166Val)" "r.(?)" "" "" "" "" "" "-" "0000021646" "00000126" "00" "497" "0" "497" "0" "c.497C>T" "" "p.(Ala166Val)" "r.(?)" "" "" "" "" "" "-" "0000021646" "00000127" "00" "497" "0" "497" "0" "c.497C>T" "" "p.(Ala166Val)" "r.(?)" "" "" "" "" "" "-" "0000021647" "00000123" "00" "506" "0" "506" "0" "c.506A>T" "" "p.(Asp169Val)" "r.(?)" "" "" "" "" "" "-" "0000021647" "00000124" "00" "506" "0" "506" "0" "c.506A>T" "" "p.(Asp169Val)" "r.(?)" "" "" "" "" "" "-" "0000021647" "00000125" "00" "506" "0" "506" "0" "c.506A>T" "" "p.(Asp169Val)" "r.(?)" "" "" "" "" "" "-" "0000021647" "00000126" "00" "506" "0" "506" "0" "c.506A>T" "" "p.(Asp169Val)" "r.(?)" "" "" "" "" "" "-" "0000021647" "00000127" "00" "506" "0" "506" "0" "c.506A>T" "" "p.(Asp169Val)" "r.(?)" "" "" "" "" "" "-" "0000021648" "00000123" "00" "550" "0" "550" "0" "c.550G>A" "" "p.(Asp184Asn)" "r.(?)" "" "" "" "" "" "-" "0000021648" "00000124" "00" "550" "0" "550" "0" "c.550G>A" "" "p.(Asp184Asn)" "r.(?)" "" "" "" "" "" "-" "0000021648" "00000125" "00" "550" "0" "550" "0" "c.550G>A" "" "p.(Asp184Asn)" "r.(?)" "" "" "" "" "" "-" "0000021648" "00000126" "00" "550" "0" "550" "0" "c.550G>A" "" "p.(Asp184Asn)" "r.(?)" "" "" "" "" "" "-" "0000021648" "00000127" "00" "550" "0" "550" "0" "c.550G>A" "" "p.(Asp184Asn)" "r.(?)" "" "" "" "" "" "-" "0000021649" "00000123" "00" "563" "0" "563" "0" "c.563A>G" "" "p.(Tyr188Cys)" "r.(?)" "" "" "" "" "" "-" "0000021649" "00000124" "00" "563" "0" "563" "0" "c.563A>G" "" "p.(Tyr188Cys)" "r.(?)" "" "" "" "" "" "-" "0000021649" "00000125" "00" "563" "0" "563" "0" "c.563A>G" "" "p.(Tyr188Cys)" "r.(?)" "" "" "" "" "" "-" "0000021649" "00000126" "00" "563" "0" "563" "0" "c.563A>G" "" "p.(Tyr188Cys)" "r.(?)" "" "" "" "" "" "-" "0000021649" "00000127" "00" "563" "0" "563" "0" "c.563A>G" "" "p.(Tyr188Cys)" "r.(?)" "" "" "" "" "" "-" "0000021650" "00000123" "00" "606" "0" "606" "0" "c.606G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021650" "00000124" "00" "606" "0" "606" "0" "c.606G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021650" "00000125" "00" "606" "0" "606" "0" "c.606G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021650" "00000126" "00" "606" "0" "606" "0" "c.606G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021650" "00000127" "00" "606" "0" "606" "0" "c.606G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021651" "00000123" "00" "613" "-4" "613" "-4" "c.613-4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021651" "00000124" "00" "613" "-4" "613" "-4" "c.613-4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021651" "00000125" "00" "613" "-4" "613" "-4" "c.613-4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021651" "00000127" "00" "613" "-4" "613" "-4" "c.613-4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021652" "00000123" "00" "667" "0" "667" "0" "c.667C>T" "" "p.(Arg223Cys)" "r.(?)" "" "" "" "" "" "-" "0000021652" "00000124" "00" "667" "0" "667" "0" "c.667C>T" "" "p.(Arg223Cys)" "r.(?)" "" "" "" "" "" "-" "0000021652" "00000125" "00" "667" "0" "667" "0" "c.667C>T" "" "p.(Arg223Cys)" "r.(?)" "" "" "" "" "" "-" "0000021652" "00000127" "00" "667" "0" "667" "0" "c.667C>T" "" "p.(Arg223Cys)" "r.(?)" "" "" "" "" "" "-" "0000021653" "00000123" "00" "676" "0" "676" "0" "c.676C>T" "" "p.(His226Tyr)" "r.(?)" "" "" "" "" "" "-" "0000021653" "00000124" "00" "676" "0" "676" "0" "c.676C>T" "" "p.(His226Tyr)" "r.(?)" "" "" "" "" "" "-" "0000021653" "00000125" "00" "676" "0" "676" "0" "c.676C>T" "" "p.(His226Tyr)" "r.(?)" "" "" "" "" "" "-" "0000021653" "00000127" "00" "676" "0" "676" "0" "c.676C>T" "" "p.(His226Tyr)" "r.(?)" "" "" "" "" "" "-" "0000021654" "00000123" "00" "730" "0" "730" "0" "c.730A>C" "" "p.(Lys244Gln)" "r.(?)" "" "" "" "" "" "-" "0000021654" "00000124" "00" "730" "0" "730" "0" "c.730A>C" "" "p.(Lys244Gln)" "r.(?)" "" "" "" "" "" "-" "0000021654" "00000125" "00" "730" "0" "730" "0" "c.730A>C" "" "p.(Lys244Gln)" "r.(?)" "" "" "" "" "" "-" "0000021654" "00000127" "00" "730" "0" "730" "0" "c.730A>C" "" "p.(Lys244Gln)" "r.(?)" "" "" "" "" "" "-" "0000021655" "00000123" "00" "737" "0" "737" "0" "c.737C>T" "" "p.(Thr246Met)" "r.(?)" "" "" "" "" "" "-" "0000021655" "00000124" "00" "737" "0" "737" "0" "c.737C>T" "" "p.(Thr246Met)" "r.(?)" "" "" "" "" "" "-" "0000021655" "00000125" "00" "737" "0" "737" "0" "c.737C>T" "" "p.(Thr246Met)" "r.(?)" "" "" "" "" "" "-" "0000021655" "00000127" "00" "737" "0" "737" "0" "c.737C>T" "" "p.(Thr246Met)" "r.(?)" "" "" "" "" "" "-" "0000021656" "00000123" "00" "750" "0" "750" "0" "c.750C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021656" "00000124" "00" "750" "0" "750" "0" "c.750C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021656" "00000125" "00" "750" "0" "750" "0" "c.750C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021656" "00000127" "00" "750" "0" "750" "0" "c.750C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021657" "00000123" "00" "754" "0" "754" "0" "c.754G>A" "" "p.(Ala252Thr)" "r.(?)" "" "" "" "" "" "-" "0000021657" "00000124" "00" "754" "0" "754" "0" "c.754G>A" "" "p.(Ala252Thr)" "r.(?)" "" "" "" "" "" "-" "0000021657" "00000125" "00" "754" "0" "754" "0" "c.754G>A" "" "p.(Ala252Thr)" "r.(?)" "" "" "" "" "" "-" "0000021657" "00000127" "00" "754" "0" "754" "0" "c.754G>A" "" "p.(Ala252Thr)" "r.(?)" "" "" "" "" "" "-" "0000021658" "00000123" "00" "781" "0" "781" "0" "c.781A>T" "" "p.(Ile261Leu)" "r.(?)" "" "" "" "" "" "-" "0000021658" "00000124" "00" "781" "0" "781" "0" "c.781A>T" "" "p.(Ile261Leu)" "r.(?)" "" "" "" "" "" "-" "0000021658" "00000125" "00" "781" "0" "781" "0" "c.781A>T" "" "p.(Ile261Leu)" "r.(?)" "" "" "" "" "" "-" "0000021658" "00000127" "00" "781" "0" "781" "0" "c.781A>T" "" "p.(Ile261Leu)" "r.(?)" "" "" "" "" "" "-" "0000021659" "00000123" "00" "919" "0" "919" "0" "c.919C>T" "" "p.(Arg307*)" "r.(?)" "" "" "" "" "" "-" "0000021659" "00000124" "00" "919" "0" "919" "0" "c.919C>T" "" "p.(Arg307*)" "r.(?)" "" "" "" "" "" "-" "0000021659" "00000127" "00" "919" "0" "919" "0" "c.919C>T" "" "p.(Arg307*)" "r.(?)" "" "" "" "" "" "-" "0000021660" "00000123" "00" "971" "0" "971" "0" "c.971A>G" "" "p.(Tyr324Cys)" "r.(?)" "" "" "" "" "" "-" "0000021660" "00000124" "00" "971" "0" "971" "0" "c.971A>G" "" "p.(Tyr324Cys)" "r.(?)" "" "" "" "" "" "-" "0000021660" "00000127" "00" "971" "0" "971" "0" "c.971A>G" "" "p.(Tyr324Cys)" "r.(?)" "" "" "" "" "" "-" "0000021661" "00000123" "00" "973" "0" "973" "0" "c.973G>T" "" "p.(Asp325Tyr)" "r.(?)" "" "" "" "" "" "-" "0000021661" "00000124" "00" "973" "0" "973" "0" "c.973G>T" "" "p.(Asp325Tyr)" "r.(?)" "" "" "" "" "" "-" "0000021661" "00000127" "00" "973" "0" "973" "0" "c.973G>T" "" "p.(Asp325Tyr)" "r.(?)" "" "" "" "" "" "-" "0000021662" "00000123" "00" "986" "0" "986" "0" "c.986T>C" "" "p.(Ile329Thr)" "r.(?)" "" "" "" "" "" "-" "0000021662" "00000124" "00" "986" "0" "986" "0" "c.986T>C" "" "p.(Ile329Thr)" "r.(?)" "" "" "" "" "" "-" "0000021662" "00000127" "00" "986" "0" "986" "0" "c.986T>C" "" "p.(Ile329Thr)" "r.(?)" "" "" "" "" "" "-" "0000021663" "00000123" "00" "1009" "0" "1009" "0" "c.1009G>A" "" "p.(Glu337Lys)" "r.(?)" "" "" "" "" "" "-" "0000021663" "00000124" "00" "1009" "0" "1009" "0" "c.1009G>A" "" "p.(Glu337Lys)" "r.(?)" "" "" "" "" "" "-" "0000021663" "00000127" "00" "1009" "0" "1009" "0" "c.1009G>A" "" "p.(Glu337Lys)" "r.(?)" "" "" "" "" "" "-" "0000021664" "00000123" "00" "1069" "0" "1069" "0" "c.1069C>T" "" "p.(Leu357Phe)" "r.(?)" "" "" "" "" "" "-" "0000021664" "00000124" "00" "1069" "0" "1069" "0" "c.1069C>T" "" "p.(Leu357Phe)" "r.(?)" "" "" "" "" "" "-" "0000021664" "00000127" "00" "1069" "0" "1069" "0" "c.1069C>T" "" "p.(Leu357Phe)" "r.(?)" "" "" "" "" "" "-" "0000021665" "00000123" "00" "1082" "0" "1082" "0" "c.1082C>T" "" "p.(Pro361Leu)" "r.(?)" "" "" "" "" "" "-" "0000021665" "00000124" "00" "1082" "0" "1082" "0" "c.1082C>T" "" "p.(Pro361Leu)" "r.(?)" "" "" "" "" "" "-" "0000021665" "00000127" "00" "1082" "0" "1082" "0" "c.1082C>T" "" "p.(Pro361Leu)" "r.(?)" "" "" "" "" "" "-" "0000021666" "00000123" "00" "1109" "0" "1111" "0" "c.1109_1111delinsAACCAGAATGAA" "" "p.(Trp370*)" "r.(?)" "" "" "" "" "" "-" "0000021666" "00000124" "00" "1109" "0" "1111" "0" "c.1109_1111delinsAACCAGAATGAA" "" "p.(Trp370*)" "r.(?)" "" "" "" "" "" "-" "0000021666" "00000127" "00" "1109" "0" "1111" "0" "c.1109_1111delinsAACCAGAATGAA" "" "p.(Trp370*)" "r.(?)" "" "" "" "" "" "-" "0000021667" "00000123" "00" "1163" "0" "1163" "0" "c.1163T>G" "" "p.(Ile388Ser)" "r.(?)" "" "" "" "" "" "-" "0000021667" "00000124" "00" "1163" "0" "1163" "0" "c.1163T>G" "" "p.(Ile388Ser)" "r.(?)" "" "" "" "" "" "-" "0000021667" "00000127" "00" "1163" "0" "1163" "0" "c.1163T>G" "" "p.(Ile388Ser)" "r.(?)" "" "" "" "" "" "-" "0000021668" "00000123" "00" "1172" "0" "1172" "0" "c.1172A>T" "" "p.(Asp391Val)" "r.(?)" "" "" "" "" "" "-" "0000021668" "00000124" "00" "1172" "0" "1172" "0" "c.1172A>T" "" "p.(Asp391Val)" "r.(?)" "" "" "" "" "" "-" "0000021668" "00000127" "00" "1172" "0" "1172" "0" "c.1172A>T" "" "p.(Asp391Val)" "r.(?)" "" "" "" "" "" "-" "0000021669" "00000123" "00" "1209" "0" "1209" "0" "c.1209A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021669" "00000124" "00" "1209" "0" "1209" "0" "c.1209A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021669" "00000127" "00" "1209" "0" "1209" "0" "c.1209A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021670" "00000123" "00" "1268" "0" "1268" "0" "c.1268G>A" "" "p.(Arg423Gln)" "r.(?)" "" "" "" "" "" "-" "0000021670" "00000124" "00" "1268" "0" "1268" "0" "c.1268G>A" "" "p.(Arg423Gln)" "r.(?)" "" "" "" "" "" "-" "0000021670" "00000127" "00" "1268" "0" "1268" "0" "c.1268G>A" "" "p.(Arg423Gln)" "r.(?)" "" "" "" "" "" "-" "0000021671" "00000123" "00" "1308" "0" "1308" "0" "c.1308C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021671" "00000124" "00" "1308" "0" "1308" "0" "c.1308C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021671" "00000127" "00" "1308" "0" "1308" "0" "c.1308C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026401" "00000123" "00" "21" "0" "21" "0" "c.21G>T" "" "p.(Arg7Ser)" "r.(?)" "" "" "" "" "" "-" "0000026401" "00000124" "00" "21" "0" "21" "0" "c.21G>T" "" "p.(Arg7Ser)" "r.(?)" "" "" "" "" "" "-" "0000026401" "00000125" "00" "21" "0" "21" "0" "c.21G>T" "" "p.(Arg7Ser)" "r.(?)" "" "" "" "" "" "-" "0000026401" "00000126" "00" "21" "0" "21" "0" "c.21G>T" "" "p.(Arg7Ser)" "r.(?)" "" "" "" "" "" "-" "0000026401" "00000127" "00" "21" "0" "21" "0" "c.21G>T" "" "p.(Arg7Ser)" "r.(?)" "" "" "" "" "" "-" "0000026402" "00000123" "00" "28" "0" "28" "0" "c.28G>T" "" "p.(Ala10Ser)" "r.(?)" "" "" "" "" "" "-" "0000026402" "00000124" "00" "28" "0" "28" "0" "c.28G>T" "" "p.(Ala10Ser)" "r.(?)" "" "" "" "" "" "-" "0000026402" "00000125" "00" "28" "0" "28" "0" "c.28G>T" "" "p.(Ala10Ser)" "r.(?)" "" "" "" "" "" "-" "0000026402" "00000126" "00" "28" "0" "28" "0" "c.28G>T" "" "p.(Ala10Ser)" "r.(?)" "" "" "" "" "" "-" "0000026402" "00000127" "00" "28" "0" "28" "0" "c.28G>T" "" "p.(Ala10Ser)" "r.(?)" "" "" "" "" "" "-" "0000026403" "00000123" "00" "253" "0" "253" "0" "c.253C>G" "" "p.(Pro85Ala)" "r.(?)" "" "" "" "" "" "-" "0000026403" "00000124" "00" "253" "0" "253" "0" "c.253C>G" "" "p.(Pro85Ala)" "r.(?)" "" "" "" "" "" "-" "0000026403" "00000125" "00" "253" "0" "253" "0" "c.253C>G" "" "p.(Pro85Ala)" "r.(?)" "" "" "" "" "" "-" "0000026403" "00000126" "00" "253" "0" "253" "0" "c.253C>G" "" "p.(Pro85Ala)" "r.(?)" "" "" "" "" "" "-" "0000026403" "00000127" "00" "253" "0" "253" "0" "c.253C>G" "" "p.(Pro85Ala)" "r.(?)" "" "" "" "" "" "-" "0000026404" "00000123" "00" "310" "0" "310" "0" "c.310C>T" "" "p.(Arg104Cys)" "r.(?)" "" "" "" "" "" "-" "0000026404" "00000124" "00" "310" "0" "310" "0" "c.310C>T" "" "p.(Arg104Cys)" "r.(?)" "" "" "" "" "" "-" "0000026404" "00000125" "00" "310" "0" "310" "0" "c.310C>T" "" "p.(Arg104Cys)" "r.(?)" "" "" "" "" "" "-" "0000026404" "00000126" "00" "310" "0" "310" "0" "c.310C>T" "" "p.(Arg104Cys)" "r.(?)" "" "" "" "" "" "-" "0000026404" "00000127" "00" "310" "0" "310" "0" "c.310C>T" "" "p.(Arg104Cys)" "r.(?)" "" "" "" "" "" "-" "0000026405" "00000123" "00" "332" "0" "332" "0" "c.332C>T" "" "p.(Ser111Leu)" "r.(?)" "" "" "" "" "" "-" "0000026405" "00000124" "00" "332" "0" "332" "0" "c.332C>T" "" "p.(Ser111Leu)" "r.(?)" "" "" "" "" "" "-" "0000026405" "00000125" "00" "332" "0" "332" "0" "c.332C>T" "" "p.(Ser111Leu)" "r.(?)" "" "" "" "" "" "-" "0000026405" "00000126" "00" "332" "0" "332" "0" "c.332C>T" "" "p.(Ser111Leu)" "r.(?)" "" "" "" "" "" "-" "0000026405" "00000127" "00" "332" "0" "332" "0" "c.332C>T" "" "p.(Ser111Leu)" "r.(?)" "" "" "" "" "" "-" "0000026406" "00000123" "00" "354" "0" "354" "0" "c.354A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026406" "00000124" "00" "354" "0" "354" "0" "c.354A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026406" "00000125" "00" "354" "0" "354" "0" "c.354A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026406" "00000126" "00" "354" "0" "354" "0" "c.354A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026406" "00000127" "00" "354" "0" "354" "0" "c.354A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026407" "00000123" "00" "390" "0" "390" "0" "c.390C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026407" "00000124" "00" "390" "0" "390" "0" "c.390C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026407" "00000125" "00" "390" "0" "390" "0" "c.390C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026407" "00000126" "00" "390" "0" "390" "0" "c.390C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026407" "00000127" "00" "390" "0" "390" "0" "c.390C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026408" "00000123" "00" "403" "0" "403" "0" "c.403C>G" "" "p.(His135Asp)" "r.(?)" "" "" "" "" "" "-" "0000026408" "00000124" "00" "403" "0" "403" "0" "c.403C>G" "" "p.(His135Asp)" "r.(?)" "" "" "" "" "" "-" "0000026408" "00000125" "00" "403" "0" "403" "0" "c.403C>G" "" "p.(His135Asp)" "r.(?)" "" "" "" "" "" "-" "0000026408" "00000126" "00" "403" "0" "403" "0" "c.403C>G" "" "p.(His135Asp)" "r.(?)" "" "" "" "" "" "-" "0000026408" "00000127" "00" "403" "0" "403" "0" "c.403C>G" "" "p.(His135Asp)" "r.(?)" "" "" "" "" "" "-" "0000026409" "00000123" "00" "426" "0" "426" "0" "c.426C>A" "" "p.(Asp142Glu)" "r.(?)" "" "" "" "" "" "-" "0000026409" "00000124" "00" "426" "0" "426" "0" "c.426C>A" "" "p.(Asp142Glu)" "r.(?)" "" "" "" "" "" "-" "0000026409" "00000125" "00" "426" "0" "426" "0" "c.426C>A" "" "p.(Asp142Glu)" "r.(?)" "" "" "" "" "" "-" "0000026409" "00000126" "00" "426" "0" "426" "0" "c.426C>A" "" "p.(Asp142Glu)" "r.(?)" "" "" "" "" "" "-" "0000026409" "00000127" "00" "426" "0" "426" "0" "c.426C>A" "" "p.(Asp142Glu)" "r.(?)" "" "" "" "" "" "-" "0000026410" "00000123" "00" "457" "0" "457" "0" "c.457A>G" "" "p.(Arg153Gly)" "r.(?)" "" "" "" "" "" "-" "0000026410" "00000124" "00" "457" "0" "457" "0" "c.457A>G" "" "p.(Arg153Gly)" "r.(?)" "" "" "" "" "" "-" "0000026410" "00000125" "00" "457" "0" "457" "0" "c.457A>G" "" "p.(Arg153Gly)" "r.(?)" "" "" "" "" "" "-" "0000026410" "00000126" "00" "457" "0" "457" "0" "c.457A>G" "" "p.(Arg153Gly)" "r.(?)" "" "" "" "" "" "-" "0000026410" "00000127" "00" "457" "0" "457" "0" "c.457A>G" "" "p.(Arg153Gly)" "r.(?)" "" "" "" "" "" "-" "0000026411" "00000123" "00" "462" "0" "462" "0" "c.462G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026411" "00000124" "00" "462" "0" "462" "0" "c.462G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026411" "00000125" "00" "462" "0" "462" "0" "c.462G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026411" "00000126" "00" "462" "0" "462" "0" "c.462G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026411" "00000127" "00" "462" "0" "462" "0" "c.462G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026412" "00000123" "00" "467" "0" "467" "0" "c.467C>T" "" "p.(Thr156Met)" "r.(?)" "" "" "" "" "" "-" "0000026412" "00000124" "00" "467" "0" "467" "0" "c.467C>T" "" "p.(Thr156Met)" "r.(?)" "" "" "" "" "" "-" "0000026412" "00000125" "00" "467" "0" "467" "0" "c.467C>T" "" "p.(Thr156Met)" "r.(?)" "" "" "" "" "" "-" "0000026412" "00000126" "00" "467" "0" "467" "0" "c.467C>T" "" "p.(Thr156Met)" "r.(?)" "" "" "" "" "" "-" "0000026412" "00000127" "00" "467" "0" "467" "0" "c.467C>T" "" "p.(Thr156Met)" "r.(?)" "" "" "" "" "" "-" "0000026413" "00000123" "00" "476" "0" "476" "0" "c.476A>C" "" "p.(His159Pro)" "r.(?)" "" "" "" "" "" "-" "0000026413" "00000124" "00" "476" "0" "476" "0" "c.476A>C" "" "p.(His159Pro)" "r.(?)" "" "" "" "" "" "-" "0000026413" "00000125" "00" "476" "0" "476" "0" "c.476A>C" "" "p.(His159Pro)" "r.(?)" "" "" "" "" "" "-" "0000026413" "00000126" "00" "476" "0" "476" "0" "c.476A>C" "" "p.(His159Pro)" "r.(?)" "" "" "" "" "" "-" "0000026413" "00000127" "00" "476" "0" "476" "0" "c.476A>C" "" "p.(His159Pro)" "r.(?)" "" "" "" "" "" "-" "0000026414" "00000123" "00" "530" "0" "530" "0" "c.530T>A" "" "p.(Val177Asp)" "r.(?)" "" "" "" "" "" "-" "0000026414" "00000124" "00" "530" "0" "530" "0" "c.530T>A" "" "p.(Val177Asp)" "r.(?)" "" "" "" "" "" "-" "0000026414" "00000125" "00" "530" "0" "530" "0" "c.530T>A" "" "p.(Val177Asp)" "r.(?)" "" "" "" "" "" "-" "0000026414" "00000126" "00" "530" "0" "530" "0" "c.530T>A" "" "p.(Val177Asp)" "r.(?)" "" "" "" "" "" "-" "0000026414" "00000127" "00" "530" "0" "530" "0" "c.530T>A" "" "p.(Val177Asp)" "r.(?)" "" "" "" "" "" "-" "0000026415" "00000123" "00" "578" "0" "578" "0" "c.578A>G" "" "p.(Gln193Arg)" "r.(?)" "" "" "" "" "" "-" "0000026415" "00000124" "00" "578" "0" "578" "0" "c.578A>G" "" "p.(Gln193Arg)" "r.(?)" "" "" "" "" "" "-" "0000026415" "00000125" "00" "578" "0" "578" "0" "c.578A>G" "" "p.(Gln193Arg)" "r.(?)" "" "" "" "" "" "-" "0000026415" "00000126" "00" "578" "0" "578" "0" "c.578A>G" "" "p.(Gln193Arg)" "r.(?)" "" "" "" "" "" "-" "0000026415" "00000127" "00" "578" "0" "578" "0" "c.578A>G" "" "p.(Gln193Arg)" "r.(?)" "" "" "" "" "" "-" "0000026416" "00000123" "00" "585" "0" "585" "0" "c.585G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026416" "00000124" "00" "585" "0" "585" "0" "c.585G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026416" "00000125" "00" "585" "0" "585" "0" "c.585G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026416" "00000126" "00" "585" "0" "585" "0" "c.585G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026416" "00000127" "00" "585" "0" "585" "0" "c.585G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026417" "00000123" "00" "613" "-11" "613" "-11" "c.613-11T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026417" "00000124" "00" "613" "-11" "613" "-11" "c.613-11T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026417" "00000125" "00" "613" "-11" "613" "-11" "c.613-11T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026417" "00000127" "00" "613" "-11" "613" "-11" "c.613-11T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026418" "00000123" "00" "638" "0" "638" "0" "c.638A>G" "" "p.(Glu213Gly)" "r.(?)" "" "" "" "" "" "-" "0000026418" "00000124" "00" "638" "0" "638" "0" "c.638A>G" "" "p.(Glu213Gly)" "r.(?)" "" "" "" "" "" "-" "0000026418" "00000125" "00" "638" "0" "638" "0" "c.638A>G" "" "p.(Glu213Gly)" "r.(?)" "" "" "" "" "" "-" "0000026418" "00000127" "00" "638" "0" "638" "0" "c.638A>G" "" "p.(Glu213Gly)" "r.(?)" "" "" "" "" "" "-" "0000026419" "00000123" "00" "706" "0" "706" "0" "c.706G>A" "" "p.(Val236Met)" "r.(?)" "" "" "" "" "" "-" "0000026419" "00000124" "00" "706" "0" "706" "0" "c.706G>A" "" "p.(Val236Met)" "r.(?)" "" "" "" "" "" "-" "0000026419" "00000125" "00" "706" "0" "706" "0" "c.706G>A" "" "p.(Val236Met)" "r.(?)" "" "" "" "" "" "-" "0000026419" "00000127" "00" "706" "0" "706" "0" "c.706G>A" "" "p.(Val236Met)" "r.(?)" "" "" "" "" "" "-" "0000026420" "00000123" "00" "748" "0" "748" "0" "c.748C>T" "" "p.(Leu250Phe)" "r.(?)" "" "" "" "" "" "-" "0000026420" "00000124" "00" "748" "0" "748" "0" "c.748C>T" "" "p.(Leu250Phe)" "r.(?)" "" "" "" "" "" "-" "0000026420" "00000125" "00" "748" "0" "748" "0" "c.748C>T" "" "p.(Leu250Phe)" "r.(?)" "" "" "" "" "" "-" "0000026420" "00000127" "00" "748" "0" "748" "0" "c.748C>T" "" "p.(Leu250Phe)" "r.(?)" "" "" "" "" "" "-" "0000026421" "00000123" "00" "768" "0" "768" "0" "c.768A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026421" "00000124" "00" "768" "0" "768" "0" "c.768A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026421" "00000125" "00" "768" "0" "768" "0" "c.768A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026421" "00000127" "00" "768" "0" "768" "0" "c.768A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026422" "00000123" "00" "792" "0" "792" "0" "c.792del" "" "p.(Asp265Thrfs*29)" "r.(?)" "" "" "" "" "" "-" "0000026422" "00000124" "00" "792" "0" "792" "0" "c.792del" "" "p.(Asp265Thrfs*29)" "r.(?)" "" "" "" "" "" "-" "0000026422" "00000125" "00" "792" "0" "792" "0" "c.792del" "" "p.(Asp265Thrfs*29)" "r.(?)" "" "" "" "" "" "-" "0000026422" "00000127" "00" "792" "0" "792" "0" "c.792del" "" "p.(Asp265Thrfs*29)" "r.(?)" "" "" "" "" "" "-" "0000026423" "00000123" "00" "819" "0" "819" "0" "c.819T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026423" "00000124" "00" "819" "0" "819" "0" "c.819T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026423" "00000125" "00" "819" "0" "819" "0" "c.819T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026423" "00000127" "00" "819" "0" "819" "0" "c.819T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026424" "00000123" "00" "839" "0" "839" "0" "c.839A>G" "" "p.(Asn280Ser)" "r.(?)" "" "" "" "" "" "-" "0000026424" "00000124" "00" "839" "0" "839" "0" "c.839A>G" "" "p.(Asn280Ser)" "r.(?)" "" "" "" "" "" "-" "0000026424" "00000125" "00" "839" "0" "839" "0" "c.839A>G" "" "p.(Asn280Ser)" "r.(?)" "" "" "" "" "" "-" "0000026424" "00000127" "00" "839" "0" "839" "0" "c.839A>G" "" "p.(Asn280Ser)" "r.(?)" "" "" "" "" "" "-" "0000026425" "00000123" "00" "839" "0" "839" "0" "c.839A>C" "" "p.(Asn280Thr)" "r.(?)" "" "" "" "" "" "-" "0000026425" "00000124" "00" "839" "0" "839" "0" "c.839A>C" "" "p.(Asn280Thr)" "r.(?)" "" "" "" "" "" "-" "0000026425" "00000125" "00" "839" "0" "839" "0" "c.839A>C" "" "p.(Asn280Thr)" "r.(?)" "" "" "" "" "" "-" "0000026425" "00000127" "00" "839" "0" "839" "0" "c.839A>C" "" "p.(Asn280Thr)" "r.(?)" "" "" "" "" "" "-" "0000026426" "00000123" "00" "873" "0" "873" "0" "c.873C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026426" "00000124" "00" "873" "0" "873" "0" "c.873C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026426" "00000125" "00" "873" "0" "873" "0" "c.873C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026426" "00000127" "00" "873" "0" "873" "0" "c.873C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026427" "00000123" "00" "905" "-1" "905" "-1" "c.905-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026427" "00000124" "00" "905" "-1" "905" "-1" "c.905-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026427" "00000127" "00" "905" "-1" "905" "-1" "c.905-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026428" "00000123" "00" "925" "0" "925" "0" "c.925G>A" "" "p.(Gly309Ser)" "r.(?)" "" "" "" "" "" "-" "0000026428" "00000124" "00" "925" "0" "925" "0" "c.925G>A" "" "p.(Gly309Ser)" "r.(?)" "" "" "" "" "" "-" "0000026428" "00000127" "00" "925" "0" "925" "0" "c.925G>A" "" "p.(Gly309Ser)" "r.(?)" "" "" "" "" "" "-" "0000026429" "00000123" "00" "984" "0" "984" "0" "c.984T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026429" "00000124" "00" "984" "0" "984" "0" "c.984T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026429" "00000127" "00" "984" "0" "984" "0" "c.984T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026430" "00000123" "00" "1014" "0" "1014" "0" "c.1014C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026430" "00000124" "00" "1014" "0" "1014" "0" "c.1014C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026430" "00000127" "00" "1014" "0" "1014" "0" "c.1014C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026431" "00000123" "00" "1054" "0" "1054" "0" "c.1054G>T" "" "p.(Val352Leu)" "r.(?)" "" "" "" "" "" "-" "0000026431" "00000124" "00" "1054" "0" "1054" "0" "c.1054G>T" "" "p.(Val352Leu)" "r.(?)" "" "" "" "" "" "-" "0000026431" "00000127" "00" "1054" "0" "1054" "0" "c.1054G>T" "" "p.(Val352Leu)" "r.(?)" "" "" "" "" "" "-" "0000026432" "00000123" "00" "1066" "-15" "1066" "-15" "c.1066-15C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026432" "00000124" "00" "1066" "-15" "1066" "-15" "c.1066-15C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026432" "00000127" "00" "1066" "-15" "1066" "-15" "c.1066-15C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026433" "00000123" "00" "1083" "0" "1083" "0" "c.1083G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026433" "00000124" "00" "1083" "0" "1083" "0" "c.1083G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026433" "00000127" "00" "1083" "0" "1083" "0" "c.1083G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026434" "00000123" "00" "1094" "0" "1094" "0" "c.1094A>G" "" "p.(Asn365Ser)" "r.(?)" "" "" "" "" "" "-" "0000026434" "00000124" "00" "1094" "0" "1094" "0" "c.1094A>G" "" "p.(Asn365Ser)" "r.(?)" "" "" "" "" "" "-" "0000026434" "00000127" "00" "1094" "0" "1094" "0" "c.1094A>G" "" "p.(Asn365Ser)" "r.(?)" "" "" "" "" "" "-" "0000026435" "00000123" "00" "1145" "0" "1145" "0" "c.1145A>G" "" "p.(Tyr382Cys)" "r.(?)" "" "" "" "" "" "-" "0000026435" "00000124" "00" "1145" "0" "1145" "0" "c.1145A>G" "" "p.(Tyr382Cys)" "r.(?)" "" "" "" "" "" "-" "0000026435" "00000127" "00" "1145" "0" "1145" "0" "c.1145A>G" "" "p.(Tyr382Cys)" "r.(?)" "" "" "" "" "" "-" "0000026436" "00000123" "00" "1156" "0" "1156" "0" "c.1156C>G" "" "p.(Arg386Gly)" "r.(?)" "" "" "" "" "" "-" "0000026436" "00000124" "00" "1156" "0" "1156" "0" "c.1156C>G" "" "p.(Arg386Gly)" "r.(?)" "" "" "" "" "" "-" "0000026436" "00000127" "00" "1156" "0" "1156" "0" "c.1156C>G" "" "p.(Arg386Gly)" "r.(?)" "" "" "" "" "" "-" "0000026437" "00000123" "00" "1220" "0" "1220" "0" "c.1220C>T" "" "p.(Thr407Met)" "r.(?)" "" "" "" "" "" "-" "0000026437" "00000124" "00" "1220" "0" "1220" "0" "c.1220C>T" "" "p.(Thr407Met)" "r.(?)" "" "" "" "" "" "-" "0000026437" "00000127" "00" "1220" "0" "1220" "0" "c.1220C>T" "" "p.(Thr407Met)" "r.(?)" "" "" "" "" "" "-" "0000026438" "00000123" "00" "1267" "0" "1267" "0" "c.1267C>T" "" "p.(Arg423Trp)" "r.(?)" "" "" "" "" "" "-" "0000026438" "00000124" "00" "1267" "0" "1267" "0" "c.1267C>T" "" "p.(Arg423Trp)" "r.(?)" "" "" "" "" "" "-" "0000026438" "00000127" "00" "1267" "0" "1267" "0" "c.1267C>T" "" "p.(Arg423Trp)" "r.(?)" "" "" "" "" "" "-" "0000026439" "00000123" "00" "1296" "0" "1296" "0" "c.1296C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026439" "00000124" "00" "1296" "0" "1296" "0" "c.1296C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026439" "00000127" "00" "1296" "0" "1296" "0" "c.1296C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026440" "00000123" "00" "1344" "0" "1344" "0" "c.1344G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026440" "00000124" "00" "1344" "0" "1344" "0" "c.1344G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026440" "00000127" "00" "1344" "0" "1344" "0" "c.1344G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026441" "00000123" "00" "1360" "0" "1360" "0" "c.*4C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026441" "00000124" "00" "1360" "0" "1360" "0" "c.*4C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026441" "00000127" "00" "1360" "0" "1360" "0" "c.*4C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0