### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HADH) # 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}}" "HADH" "hydroxyacyl-CoA dehydrogenase" "4" "q22-q26" "unknown" "NC_000004.11" "UD_132084536899" "" "" "" "1" "1" "4799" "3033" "601609" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000784" "HADH" "transcript variant 1" "001" "NM_001184705.2" "" "NP_001171634.2" "" "" "" "-219" "1814" "996" "108910870" "108956331" "00001" "2013-11-12 21:40:48" "" "" "" "4" "00000785" "HADH" "transcript variant 2" "002" "NM_005327.4" "" "NP_005318.3" "" "" "" "-219" "1763" "945" "108910870" "108956331" "00001" "2013-11-12 21:40:48" "" "" "" "4" ## 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}}" "00467" "HADH Dificiency" "3-@HYDROXYACYL-CoA DEHYDROGENASE; HADH" "231530" "" "" "" "00001" "2014-04-10 15:30:00" "00001" "2014-08-15 14:12:02" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HADH" "00467" ## 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 = 30 "{{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}}" "0000001001" "0" "99" "4" "108911206" "108911206" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:37" "HADH_000001" "g.108911206G>A" "" "" "" "rs137853101" "subst" "0" "; Ensembl;" "1.230" "" "" "" "" "MSCV_0001001" "" "0000001002" "0" "99" "4" "108930953" "108930953" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:37" "HADH_000002" "g.108930953C>A" "" "" "" "rs137853102" "subst" "0" "; Ensembl;" "2.490" "" "" "" "" "MSCV_0001002" "" "0000020679" "0" "55" "4" "108910894" "108910894" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:45" "HADH_000018" "g.108910894A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020679" "" "0000020680" "0" "55" "4" "108910894" "108910894" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:47" "HADH_000019" "g.108910894A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020680" "" "0000020681" "0" "33" "4" "108910896" "108910896" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:49" "HADH_000020" "g.108910896G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020681" "" "0000020682" "0" "00" "4" "108910974" "108910974" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:51" "HADH_000021" "g.108910974del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020682" "" "0000020683" "0" "33" "4" "108910987" "108910987" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:53" "HADH_000022" "g.108910987G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020683" "" "0000020684" "0" "33" "4" "108911018" "108911018" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:55" "HADH_000023" "g.108911018C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020684" "" "0000020685" "0" "33" "4" "108911024" "108911024" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:57" "HADH_000024" "g.108911024G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020685" "" "0000020686" "0" "00" "4" "108911038" "108911038" "del" "35" "0.000724404" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:59" "HADH_000025" "g.108911038del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020686" "" "0000020687" "0" "11" "4" "108911051" "108911051" "subst" "35" "0.144243" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:55" "HADH_000015" "g.108911051T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020687" "" "0000020688" "0" "55" "4" "108911053" "108911053" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-09 10:14:32" "HADH_000016" "g.108911053C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020688" "" "0000020689" "0" "55" "4" "108911109" "108911109" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:08:00" "HADH_000017" "g.108911109G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020689" "" "0000020690" "0" "55" "4" "108911160" "108911160" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:13" "HADH_000003" "g.108911160G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020690" "" "0000020691" "0" "99" "4" "108911206" "108911206" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:16" "HADH_000001" "g.108911206G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001001" "" "0000020692" "0" "99" "4" "108930953" "108930953" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:18" "HADH_000002" "g.108930953C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001002" "" "0000020693" "0" "55" "4" "108931022" "108931022" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:20" "HADH_000004" "g.108931022G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020693" "" "0000020695" "0" "77" "4" "108935616" "108935616" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:23" "HADH_000005" "g.108935616G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020695" "" "0000020696" "0" "33" "4" "108944732" "108944732" "subst" "35" "0.0384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:25" "HADH_000006" "g.108944732G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020696" "" "0000020697" "0" "77" "4" "108948883" "108948883" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:28" "HADH_000007" "g.108948883T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020697" "" "0000020698" "0" "55" "4" "108955457" "108955457" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:30" "HADH_000008" "g.108955457G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020698" "" "0000020699" "0" "55" "4" "108955572" "108955572" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:32" "HADH_000009" "g.108955572G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020699" "" "0000020700" "0" "33" "4" "108955622" "108955622" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:34" "HADH_000010" "g.108955622T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020700" "" "0000020701" "0" "55" "4" "108955818" "108955818" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:35" "HADH_000011" "g.108955818T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020701" "" "0000020702" "0" "55" "4" "108956113" "108956113" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-07-20 17:44:31" "HADH_000012" "g.108956113C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020702" "" "0000020703" "0" "00" "4" "108956168" "108956169" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:39" "HADH_000013" "g.108956168_108956169insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020703" "" "0000020704" "0" "33" "4" "108956331" "108956331" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:42" "HADH_000014" "g.108956331A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020704" "" "0000026231" "0" "00" "4" "108940732" "108940732" "subst" "35" "0.00276795" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:41:01" "HADH_000028" "g.108940732G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026232" "0" "00" "4" "108948850" "108948850" "subst" "35" "0.00269107" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:19:19" "HADH_000026" "g.108948850C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026233" "0" "00" "4" "108948869" "108948869" "subst" "35" "0.00322928" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:19:31" "HADH_000027" "g.108948869G>A" "" "" "" "" "" "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 = 60 "{{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}}" "0000001001" "00000784" "55" "118" "0" "118" "0" "c.118G>A" "1/9" "p.(Ala40Thr)" "r.(?)" "benign(0.067)" "" "missense_variant" "" "" "tolerated(0.16)" "0000001001" "00000785" "55" "118" "0" "118" "0" "c.118G>A" "1/9" "p.(Ala40Thr)" "r.(?)" "benign(0.067)" "" "missense_variant" "" "" "tolerated(0.16)" "0000001002" "00000784" "55" "171" "0" "171" "0" "c.171C>A" "2/9" "p.(Asp57Glu)" "r.(?)" "benign(0.385)" "" "missense_variant" "" "" "tolerated(0.16)" "0000001002" "00000785" "55" "171" "0" "171" "0" "c.171C>A" "2/9" "p.(Asp57Glu)" "r.(?)" "benign(0.385)" "" "missense_variant" "" "" "tolerated(0.16)" "0000020679" "00000784" "00" "-195" "0" "-195" "0" "c.-195A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020679" "00000785" "00" "-195" "0" "-195" "0" "c.-195A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020680" "00000784" "00" "-195" "0" "-195" "0" "c.-195A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020680" "00000785" "00" "-195" "0" "-195" "0" "c.-195A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020681" "00000784" "00" "-193" "0" "-193" "0" "c.-193G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020681" "00000785" "00" "-193" "0" "-193" "0" "c.-193G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020682" "00000784" "00" "-115" "0" "-115" "0" "c.-115del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020682" "00000785" "00" "-115" "0" "-115" "0" "c.-115del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020683" "00000784" "00" "-102" "0" "-102" "0" "c.-102G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020683" "00000785" "00" "-102" "0" "-102" "0" "c.-102G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020684" "00000784" "00" "-71" "0" "-71" "0" "c.-71C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020684" "00000785" "00" "-71" "0" "-71" "0" "c.-71C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020685" "00000784" "00" "-65" "0" "-65" "0" "c.-65G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020685" "00000785" "00" "-65" "0" "-65" "0" "c.-65G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020686" "00000784" "00" "-51" "0" "-51" "0" "c.-51del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020686" "00000785" "00" "-51" "0" "-51" "0" "c.-51del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020687" "00000784" "00" "-38" "0" "-38" "0" "c.-38T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020687" "00000785" "00" "-38" "0" "-38" "0" "c.-38T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020688" "00000784" "00" "-36" "0" "-36" "0" "c.-36C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020688" "00000785" "00" "-36" "0" "-36" "0" "c.-36C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020689" "00000784" "00" "21" "0" "21" "0" "c.21G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020689" "00000785" "00" "21" "0" "21" "0" "c.21G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020690" "00000784" "00" "72" "0" "72" "0" "c.72G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020690" "00000785" "00" "72" "0" "72" "0" "c.72G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020691" "00000784" "00" "118" "0" "118" "0" "c.118G>A" "" "p.(Ala40Thr)" "r.(?)" "" "" "" "" "" "-" "0000020691" "00000785" "00" "118" "0" "118" "0" "c.118G>A" "" "p.(Ala40Thr)" "r.(?)" "" "" "" "" "" "-" "0000020692" "00000784" "00" "171" "0" "171" "0" "c.171C>A" "" "p.(Asp57Glu)" "r.(?)" "" "" "" "" "" "-" "0000020692" "00000785" "00" "171" "0" "171" "0" "c.171C>A" "" "p.(Asp57Glu)" "r.(?)" "" "" "" "" "" "-" "0000020693" "00000784" "00" "240" "0" "240" "0" "c.240G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020693" "00000785" "00" "240" "0" "240" "0" "c.240G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020695" "00000784" "00" "291" "0" "291" "0" "c.291G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020695" "00000785" "00" "291" "0" "291" "0" "c.291G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020696" "00000784" "00" "636" "13" "636" "13" "c.636+13G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020696" "00000785" "00" "636" "13" "636" "13" "c.636+13G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020697" "00000784" "00" "676" "0" "676" "0" "c.676T>C" "" "p.(Tyr226His)" "r.(?)" "" "" "" "" "" "-" "0000020697" "00000785" "00" "676" "0" "676" "0" "c.676T>C" "" "p.(Tyr226His)" "r.(?)" "" "" "" "" "" "-" "0000020698" "00000784" "00" "940" "0" "940" "0" "c.940G>A" "" "p.(Val314Ile)" "r.(?)" "" "" "" "" "" "-" "0000020698" "00000785" "00" "889" "0" "889" "0" "c.889G>A" "" "p.(Val297Ile)" "r.(?)" "" "" "" "" "" "-" "0000020699" "00000784" "00" "1055" "0" "1055" "0" "c.*59G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020699" "00000785" "00" "1004" "0" "1004" "0" "c.*59G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020700" "00000784" "00" "1105" "0" "1105" "0" "c.*109T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020700" "00000785" "00" "1054" "0" "1054" "0" "c.*109T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020701" "00000784" "00" "1301" "0" "1301" "0" "c.*305T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020701" "00000785" "00" "1250" "0" "1250" "0" "c.*305T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020702" "00000784" "00" "1596" "0" "1596" "0" "c.*600C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020702" "00000785" "00" "1545" "0" "1545" "0" "c.*600C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020703" "00000784" "00" "1651" "0" "1652" "0" "c.*655_*656insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020703" "00000785" "00" "1600" "0" "1601" "0" "c.*655_*656insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020704" "00000784" "00" "1814" "0" "1814" "0" "c.*818A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020704" "00000785" "00" "1763" "0" "1763" "0" "c.*818A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026231" "00000784" "00" "456" "0" "456" "0" "c.456G>T" "" "p.(Gln152His)" "r.(?)" "" "" "" "" "" "-" "0000026231" "00000785" "00" "456" "0" "456" "0" "c.456G>T" "" "p.(Gln152His)" "r.(?)" "" "" "" "" "" "-" "0000026232" "00000784" "00" "643" "0" "643" "0" "c.643C>A" "" "p.(Pro215Thr)" "r.(?)" "" "" "" "" "" "-" "0000026232" "00000785" "00" "643" "0" "643" "0" "c.643C>A" "" "p.(Pro215Thr)" "r.(?)" "" "" "" "" "" "-" "0000026233" "00000784" "00" "662" "0" "662" "0" "c.662G>A" "" "p.(Arg221His)" "r.(?)" "" "" "" "" "" "-" "0000026233" "00000785" "00" "662" "0" "662" "0" "c.662G>A" "" "p.(Arg221His)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0