### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COQ4) # 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}}" "COQ4" "coenzyme Q4" "9" "q34.2" "unknown" "NC_000009.11" "UD_132610475122" "" "" "" "1" "1" "19693" "51117" "612898" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "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 = 1 "{{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}}" "00000621" "COQ4" "coenzyme Q4 homolog (S. cerevisiae)" "001" "NM_016035.3" "" "NP_057119.2" "" "" "" "-347" "1225" "798" "131084791" "131096351" "00001" "2013-11-12 21:33:49" "" "" "" "9" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00639" "COQ10D7" "COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7" "616276" "" "Primary coenzyme Q10 deficiency-7 (COQ10D7) is caused by homozygous or compound heterozygous mutation in the COQ4 gene (612898) on chromosome 9q34.\r\n\r\n\r\n▼ Description\r\nPrimary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015). \r\n\r\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426)." "" "00001" "2019-05-04 13:43:43" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "COQ4" "00639" ## 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 = 44 "{{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}}" "0000026775" "0" "00" "9" "131085169" "131085169" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 05:07:44" "COQ4_000044" "g.131085169G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026776" "0" "00" "9" "131085181" "131085181" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:42:09" "COQ4_000027" "g.131085181T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026777" "0" "00" "9" "131085184" "131085184" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:42:13" "COQ4_000028" "g.131085184C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026778" "0" "00" "9" "131085185" "131085185" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:42:18" "COQ4_000029" "g.131085185G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026779" "0" "00" "9" "131085202" "131085203" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:42:23" "COQ4_000030" "g.131085202_131085203insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026780" "0" "00" "9" "131085209" "131085209" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:42:28" "COQ4_000031" "g.131085209C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026781" "0" "00" "9" "131085217" "131085217" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:42:33" "COQ4_000032" "g.131085217G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026782" "0" "00" "9" "131085327" "131085327" "subst" "35" "0.000395883" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:42:38" "COQ4_000033" "g.131085327G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026783" "0" "00" "9" "131085368" "131085368" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:42:43" "COQ4_000034" "g.131085368G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026785" "0" "00" "9" "131085379" "131085379" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:42:50" "COQ4_000035" "g.131085379T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026786" "0" "00" "9" "131085414" "131085414" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:42:54" "COQ4_000036" "g.131085414C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026787" "0" "00" "9" "131085421" "131085422" "delins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:57:25" "COQ4_000001" "g.131085421_131085422delinsAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026788" "0" "00" "9" "131085426" "131085426" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-07-02 12:41:49" "COQ4_000002" "g.131085426G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026789" "0" "00" "9" "131088056" "131088056" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:57:34" "COQ4_000003" "g.131088056A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026790" "0" "00" "9" "131088098" "131088098" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:57:39" "COQ4_000004" "g.131088098A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026791" "0" "00" "9" "131088114" "131088114" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:57:44" "COQ4_000005" "g.131088114C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026792" "0" "00" "9" "131088115" "131088115" "subst" "35" "0.00030755" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:57:49" "COQ4_000006" "g.131088115G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026793" "0" "00" "9" "131088128" "131088128" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:57:54" "COQ4_000007" "g.131088128G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026794" "0" "00" "9" "131088133" "131088133" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:57:59" "COQ4_000008" "g.131088133C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026795" "0" "00" "9" "131088143" "131088143" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:58:04" "COQ4_000009" "g.131088143C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026796" "0" "00" "9" "131088160" "131088160" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:58:08" "COQ4_000010" "g.131088160C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026797" "0" "00" "9" "131094450" "131094450" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:58:13" "COQ4_000011" "g.131094450C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026798" "0" "00" "9" "131094453" "131094453" "subst" "35" "0.00253807" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:58:18" "COQ4_000012" "g.131094453G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026799" "0" "00" "9" "131094462" "131094462" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:58:23" "COQ4_000013" "g.131094462C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026800" "0" "00" "9" "131094466" "131094466" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:58:28" "COQ4_000014" "g.131094466T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026801" "0" "00" "9" "131094474" "131094474" "subst" "35" "0.0000768994" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:58:33" "COQ4_000015" "g.131094474G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026802" "0" "00" "9" "131094490" "131094490" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:58:37" "COQ4_000016" "g.131094490A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026803" "0" "00" "9" "131094490" "131094490" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:58:42" "COQ4_000017" "g.131094490A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026804" "0" "00" "9" "131094497" "131094497" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:58:47" "COQ4_000018" "g.131094497T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026805" "0" "00" "9" "131094498" "131094498" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:58:52" "COQ4_000019" "g.131094498C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026806" "0" "00" "9" "131094512" "131094512" "subst" "51" "0.00615101" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-03 10:19:29" "COQ4_000020" "g.131094512G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026807" "0" "00" "9" "131094547" "131094549" "del" "35" "0.000079885" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:59:02" "COQ4_000021" "g.131094547_131094549del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026808" "0" "00" "9" "131095137" "131095137" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:59:06" "COQ4_000022" "g.131095137G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026809" "0" "00" "9" "131095176" "131095176" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:59:11" "COQ4_000023" "g.131095176A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026810" "0" "00" "9" "131095210" "131095210" "subst" "35" "0.00522836" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:59:16" "COQ4_000024" "g.131095210G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026811" "0" "00" "9" "131095795" "131095795" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:59:21" "COQ4_000025" "g.131095795T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026812" "0" "00" "9" "131095805" "131095805" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:42:59" "COQ4_000037" "g.131095805C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026813" "0" "00" "9" "131095807" "131095807" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:43:04" "COQ4_000038" "g.131095807C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026814" "0" "00" "9" "131095815" "131095815" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:43:09" "COQ4_000039" "g.131095815C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026815" "0" "00" "9" "131095827" "131095827" "subst" "35" "0.00030755" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:43:14" "COQ4_000040" "g.131095827A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026816" "0" "00" "9" "131095844" "131095844" "subst" "35" "0.00030755" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:43:19" "COQ4_000041" "g.131095844C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026817" "0" "00" "9" "131095870" "131095870" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:43:24" "COQ4_000042" "g.131095870G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026818" "0" "00" "9" "131095878" "131095878" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:43:29" "COQ4_000043" "g.131095878A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026819" "0" "00" "9" "131095897" "131095897" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-03 10:19:29" "COQ4_000026" "g.131095897A>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 = 44 "{{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}}" "0000026775" "00000621" "00" "32" "0" "32" "0" "c.32G>C" "" "p.(Arg11Pro)" "r.(?)" "" "" "" "" "" "-" "0000026776" "00000621" "00" "44" "0" "44" "0" "c.44T>C" "" "p.(Leu15Pro)" "r.(?)" "" "" "" "" "" "-" "0000026777" "00000621" "00" "47" "0" "47" "0" "c.47C>G" "" "p.(Pro16Arg)" "r.(?)" "" "" "" "" "" "-" "0000026778" "00000621" "00" "48" "0" "48" "0" "c.48G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026779" "00000621" "00" "65" "0" "66" "0" "c.65_66insG" "" "p.(Ala23Glyfs*8)" "r.(?)" "" "" "" "" "" "-" "0000026780" "00000621" "00" "70" "2" "70" "2" "c.70+2C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026781" "00000621" "00" "70" "10" "70" "10" "c.70+10G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026782" "00000621" "00" "103" "0" "103" "0" "c.103G>A" "" "p.(Gly35Ser)" "r.(?)" "" "" "" "" "" "-" "0000026783" "00000621" "00" "144" "0" "144" "0" "c.144G>T" "" "p.(Gln48His)" "r.(?)" "" "" "" "" "" "-" "0000026785" "00000621" "00" "155" "0" "155" "0" "c.155T>C" "" "p.(Leu52Ser)" "r.(?)" "" "" "" "" "" "-" "0000026786" "00000621" "00" "190" "0" "190" "0" "c.190C>T" "" "p.(Pro64Ser)" "r.(?)" "" "" "" "" "" "-" "0000026787" "00000621" "00" "197" "0" "198" "0" "c.197_198delinsAA" "" "p.(Arg66Gln)" "r.(?)" "" "" "" "" "" "-" "0000026788" "00000621" "00" "202" "0" "202" "0" "c.202G>C" "" "p.(Asp68His)" "r.(?)" "" "" "" "" "" "-" "0000026789" "00000621" "00" "300" "-2" "300" "-2" "c.300-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026790" "00000621" "00" "340" "0" "340" "0" "c.340A>G" "" "p.(Lys114Glu)" "r.(?)" "" "" "" "" "" "-" "0000026791" "00000621" "00" "356" "0" "356" "0" "c.356C>T" "" "p.(Pro119Leu)" "r.(?)" "" "" "" "" "" "-" "0000026792" "00000621" "00" "357" "0" "357" "0" "c.357G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026793" "00000621" "00" "370" "0" "370" "0" "c.370G>A" "" "p.(Gly124Ser)" "r.(?)" "" "" "" "" "" "-" "0000026794" "00000621" "00" "375" "0" "375" "0" "c.375C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026795" "00000621" "00" "385" "0" "385" "0" "c.385C>T" "" "p.(Arg129Cys)" "r.(?)" "" "" "" "" "" "-" "0000026796" "00000621" "00" "402" "0" "402" "0" "c.402C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026797" "00000621" "00" "421" "0" "421" "0" "c.421C>T" "" "p.(Arg141*)" "r.(?)" "" "" "" "" "" "-" "0000026798" "00000621" "00" "424" "0" "424" "0" "c.424G>A" "" "p.(Ala142Thr)" "r.(?)" "" "" "" "" "" "-" "0000026799" "00000621" "00" "433" "0" "433" "0" "c.433C>G" "" "p.(Arg145Gly)" "r.(?)" "" "" "" "" "" "-" "0000026800" "00000621" "00" "437" "0" "437" "0" "c.437T>G" "" "p.(Phe146Cys)" "r.(?)" "" "" "" "" "" "-" "0000026801" "00000621" "00" "445" "0" "445" "0" "c.445G>C" "" "p.(Asp149His)" "r.(?)" "" "" "" "" "" "-" "0000026802" "00000621" "00" "461" "0" "461" "0" "c.461A>T" "" "p.(Tyr154Phe)" "r.(?)" "" "" "" "" "" "-" "0000026803" "00000621" "00" "461" "0" "461" "0" "c.461A>G" "" "p.(Tyr154Cys)" "r.(?)" "" "" "" "" "" "-" "0000026804" "00000621" "00" "468" "0" "468" "0" "c.468T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026805" "00000621" "00" "469" "0" "469" "0" "c.469C>A" "" "p.(Gln157Lys)" "r.(?)" "" "" "" "" "" "-" "0000026806" "00000621" "00" "483" "0" "483" "0" "c.483G>C" "" "p.(Glu161Asp)" "r.(?)" "" "" "" "" "" "-" "0000026807" "00000621" "00" "518" "0" "520" "0" "c.518_520del" "" "p.(Thr174del)" "r.(?)" "" "" "" "" "" "-" "0000026808" "00000621" "00" "541" "0" "541" "0" "c.541G>A" "" "p.(Val181Met)" "r.(?)" "" "" "" "" "" "-" "0000026809" "00000621" "00" "580" "0" "580" "0" "c.580A>G" "" "p.(Met194Val)" "r.(?)" "" "" "" "" "" "-" "0000026810" "00000621" "00" "614" "0" "614" "0" "c.614G>A" "" "p.(Arg205Gln)" "r.(?)" "" "" "" "" "" "-" "0000026811" "00000621" "00" "669" "0" "669" "0" "c.669T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026812" "00000621" "00" "679" "0" "679" "0" "c.679C>T" "" "p.(Arg227Cys)" "r.(?)" "" "" "" "" "" "-" "0000026813" "00000621" "00" "681" "0" "681" "0" "c.681C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026814" "00000621" "00" "689" "0" "689" "0" "c.689C>A" "" "p.(Pro230Gln)" "r.(?)" "" "" "" "" "" "-" "0000026815" "00000621" "00" "701" "0" "701" "0" "c.701A>G" "" "p.(Asn234Ser)" "r.(?)" "" "" "" "" "" "-" "0000026816" "00000621" "00" "718" "0" "718" "0" "c.718C>T" "" "p.(Arg240Cys)" "r.(?)" "" "" "" "" "" "-" "0000026817" "00000621" "00" "744" "0" "744" "0" "c.744G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026818" "00000621" "00" "752" "0" "752" "0" "c.752A>T" "" "p.(Glu251Val)" "r.(?)" "" "" "" "" "" "-" "0000026819" "00000621" "00" "771" "0" "771" "0" "c.771A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0