### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CYB5R3) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "CYB5R3" "cytochrome b5 reductase 3" "22" "q13.2" "unknown" "NG_012194.1" "UD_132085233253" "" "http://www.LOVD.nl/CYB5R3" "" "1" "2873" "1727" "613213" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CYB5R3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-11-24 22:22:26" "00000" "2025-05-05 21:14:00" ## 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}}" "00005968" "CYB5R3" "transcript variant 1" "001" "NM_000398.6" "" "NP_000389.1" "" "" "" "-84" "2839" "906" "43045405" "43013846" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01916" "-" "methemoglobinemia (cytochrome-b5 reductase deficiency)" "AR" "250800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CYB5R3" "00139" "CYB5R3" "01916" ## Individuals ## Do not remove or alter this header ## ## Count = 95 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00088191" "" "" "" "1" "" "01827" "" "" "F" "no" "" "" "0" "" "" "white" "" "00088193" "" "" "" "1" "" "01827" "" "" "" "" "" "04y?" "0" "" "" "Middle-Eastern" "" "00090172" "" "" "" "1" "" "01827" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00090173" "" "" "" "1" "" "01827" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00090174" "" "" "" "1" "" "01827" "" "2-generation family, 1 affected, unaffected heterozygous son carries 175C>T" "F" "" "(Germany)" "" "0" "" "" "" "" "00090175" "" "" "" "1" "" "01827" "" "2-generation family, 1 affected, unaffected heterozygous carrier parent/family members" "F" "" "(Germany)" "" "0" "" "" "" "" "00090176" "" "" "" "1" "" "01827" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00090177" "" "" "" "1" "" "01827" "" "2-generation family, 1 affected, unaffected heterozygous carrier parent/family members" "F" "" "Germany" "" "0" "" "" "" "" "00090178" "" "" "" "1" "" "01827" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00090179" "" "" "" "1" "" "01827" "{PMID:Dekker 2001:11159544}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "(Germany)" "" "0" "" "" "" "" "00090180" "" "" "" "1" "" "01827" "" "2-generation family, 1 affected, unaffected heterozygous carrier parent" "F" "" "(Germany)" "" "0" "" "" "" "" "00090185" "" "" "" "1" "" "01827" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}" "" "" "" "Italy" "" "0" "" "" "" "" "00090186" "" "" "" "1" "" "01827" "{PMID:Manabe 1996:8874222}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00090187" "" "" "" "1" "" "01827" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}" "" "" "" "Italy" "" "0" "" "" "" "" "00090188" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "F" "no" "India" "" "0" "" "" "Goa" "" "00090189" "" "" "" "2" "" "01827" "{PMID:Dekker 2001:11159544}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "no" "Spain" "" "0" "" "" "" "" "00090190" "" "" "" "1" "" "01827" "{DOI:Ewenczyk 2008:10.1093/brain/awm337}" "" "" "" "" "" "0" "" "" "" "" "00090191" "" "" "" "1" "" "01827" "{DOI:Lorenzo 2011:10.1016/j.bcmd.2011.01.005}" "" "" "" "Mexico" "" "0" "" "" "mexican" "" "00090192" "" "" "" "1" "" "01827" "{DOI:Kedar 2014:10.1016/j.cca.2014.07.015}" "" "" "" "India" "" "0" "" "" "" "" "00090193" "" "" "" "1" "" "01827" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}" "" "" "" "China;Japan" "" "0" "" "" "" "" "00090194" "" "" "" "1" "" "01827" "{DOI:Cooper 2016:10.1002/pbc.25791}" "" "" "" "" "" "0" "" "" "" "" "00090195" "" "" "" "1" "" "01827" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}" "" "" "" "Spain" "" "0" "" "" "" "" "00090196" "" "" "" "1" "" "01827" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}" "" "" "" "China" "" "0" "" "" "chinese" "" "00090197" "" "" "" "1" "" "01827" "{DOI:Percy 2006:10.1016/j.bcmd.2005.10.001}, {PMID:Percy 2006:16310381}" "" "" "" "India" "" "0" "" "" "" "" "00090198" "" "" "" "1" "" "01827" "{PMID:Aalfs 2000:10874300}" "" "" "" "" "" "0" "" "" "" "" "00090199" "" "" "" "1" "" "01827" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}" "" "" "" "Thailand" "" "0" "" "" "" "" "00090200" "" "" "" "1" "" "01827" "{PMID:Manabe 1996:8874222}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00090201" "" "" "" "1" "" "01827" "{PMID:Shirabe 1992:1400360}" "" "" "" "Italy" "" "0" "" "" "" "" "00090202" "" "" "" "1" "" "01827" "{DOI:Ewenczyk 2008:10.1093/brain/awm337}" "" "" "" "" "" "0" "" "" "" "" "00090203" "" "" "" "1" "" "01827" "{DOI:Kugler 2001:10.1002/humu.31}" "" "" "" "Germany" "" "0" "" "" "" "" "00090204" "" "" "" "1" "" "01827" "{PMID:Dekker 2001:11159544}" "" "" "no" "Hong Kong" "" "0" "" "" "" "" "00090205" "" "" "" "1" "" "01827" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}" "" "" "" "Germany" "" "0" "" "" "" "" "00090206" "" "" "" "4" "" "01827" "{PMID:Kobayashi 1990:2107882}" "3-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Japan" "" "0" "" "" "" "" "00090207" "" "" "" "1" "" "01827" "{DOI:Ewenczyk 2008:10.1093/brain/awm337}" "" "" "" "" "" "0" "" "" "" "" "00090208" "" "" "" "1" "" "01827" "{DOI:Kedar 2008:10.1016/j.bcmd.2007.09.006}" "" "" "" "India" "" "0" "" "" "" "" "00090209" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "yes" "India" "" "0" "" "" "Maharashtra" "" "00090211" "" "" "" "1" "" "01827" "{DOI:Percy and Lappin 2008:10.1111/j.1365-2141.2008.07017.x}, {PMID:Percy and Lappin 2008:18318771}" "" "" "" "Japan" "" "0" "" "" "" "" "00090212" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "yes" "India" "" "0" "" "" "Maharashtra" "" "00090213" "" "" "" "1" "" "01827" "{PMID:Maran 2005:15921385}" "" "" "" "" "" "0" "" "" "" "" "00090214" "" "" "" "1" "" "01827" "{DOI:Yilmaz 2005:10.1002/ajmg.a.30467}" "" "" "" "" "" "0" "" "" "" "" "00090215" "" "" "" "1" "" "01827" "{PMID:Vieira 1995:7718898}" "" "" "" "" "" "0" "" "" "" "" "00090216" "" "" "" "1" "" "01827" "{PMID:Owen 1997:9266404}" "" "" "" "" "" "0" "" "" "" "" "00090217" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "no" "India" "" "0" "" "" "Gujarat" "" "00090218" "" "" "" "1" "" "01827" "{DOI:Lorenzo 2011:10.1016/j.bcmd.2011.01.005}" "" "" "" "" "" "0" "" "" "" "" "00090219" "" "" "" "1" "" "01827" "{PMID:Aalfs 2000:10874300}" "" "" "" "" "" "0" "" "" "" "" "00090220" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1016/j.ymgmr.2015.10.002}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "" "" "00090221" "" "" "" "1" "" "01827" "{DOI:Rawa 2013: 10.1159/000347041}" "" "" "" "Poland" "" "0" "" "" "" "" "00090222" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "F" "yes" "India" "" "0" "" "" "Maharashtra" "" "00090223" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "yes" "India" "" "0" "" "" "Maharashtra" "" "00090224" "" "" "" "1" "" "01827" "{PMID:Dekker 2001:11159544}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "Africa, north" "" "00090225" "" "" "" "1" "" "01827" "{PMID:Maran 2005:15921385}" "" "" "" "" "" "0" "" "" "" "" "00090226" "" "" "" "1" "" "01827" "{PMID:Maran 2005:15921385}" "" "" "" "France;Spain" "" "0" "" "" "" "" "00090227" "" "" "" "1" "" "01827" "{PMID:Wang 2000:10807796}" "" "" "" "China" "" "0" "" "" "" "" "00090228" "" "" "" "1" "" "01827" "{PMID:Jenkins and Prchal 1996:8639921}" "" "" "" "United States" "" "0" "" "" "African American" "" "00090229" "" "" "" "1" "" "01827" "{PMID:Nussenzweig 2006:17082011}" "" "" "" "" "" "0" "" "" "" "" "00090230" "" "" "" "1" "" "01827" "{PMID:Vieira 1995:7718898}" "" "" "" "Algeria" "" "0" "" "" "" "" "00090231" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "F" "yes" "India" "" "0" "" "" "Tamil Nadu" "" "00090232" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "yes" "India" "" "0" "" "" "Andhra Pradesh" "" "00090233" "" "" "" "2" "" "01827" "{PMID:Dekker 2001:11159544}" "2-generation family, 2 affecteds, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "" "00090234" "" "" "" "1" "" "01827" "{DOI:Percy 2005:10.1111/j.1365-2141.2005.05526.x}" "" "" "" "" "" "0" "" "" "" "" "00090235" "" "" "" "1" "" "01827" "{DOI:Toelle 2004:10.1007/s00431-004-1409-x} ,{PMID:Toelle 2004:14986124}" "" "" "" "" "" "0" "" "" "" "" "00090236" "" "" "" "1" "" "01827" "{PMID:Shirabe 1995:7668255}" "" "" "" "" "" "0" "" "" "" "" "00090237" "" "" "" "2" "" "01827" "{PMID:Dekker 2001:11159544}" "2-generation family, 2 affecteds, unaffected heterozygous carrier parents" "" "" "Germany;Netherlands" "" "0" "" "" "netherlands, mediterranean, germany" "" "00090238" "" "" "" "1" "" "01827" "{DOI:Percy 2002:10.1182/blood-2002-05-1405 }" "" "" "" "" "" "0" "" "" "" "" "00090239" "" "" "" "1" "" "01827" "{PMID:Maran 2005:15921385}" "" "" "" "" "" "0" "" "" "" "" "00090240" "" "" "" "1" "" "01827" "{DOI:Forestier 2015:10.3109/03630269.2015.1065882}" "" "" "" "Bahrain" "" "0" "" "" "" "" "00090241" "" "" "" "1" "" "01827" "{PMID:Galeeva 2013:23866629}" "" "" "" "Russian Federation" "" "0" "" "" "Yakutia (Sakha)" "" "00090242" "" "" "" "1" "" "01827" "{PMID:Vieira 1995:7718898}" "" "" "" "" "" "0" "" "" "" "" "00090243" "" "" "" "1" "" "01827" "{DOI:Percy 2002:10.1182/blood-2002-05-1405 }" "" "" "" "" "" "0" "" "" "" "" "00090244" "" "" "" "1" "" "01827" "{DOI:Leroux 2005:10.1111/j.1600-0609.2004.00388.x}, {PMID:Leroux 2005:15813912}" "" "" "" "" "" "0" "" "" "" "" "00090245" "" "" "" "1" "" "01827" "{PMID:Shirabe 1994:8119939}" "" "" "" "Japan" "" "0" "" "" "" "" "00090246" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "" "India" "" "0" "" "" "Maharashtra" "" "00090247" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "" "India" "" "0" "" "" "Bihar" "" "00090248" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "" "India" "" "0" "" "" "Maharashtra" "" "00090249" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "" "India" "" "0" "" "" "Uttar Pradesh" "" "00090250" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "F" "" "India" "" "0" "" "" "Rajasthan" "" "00090251" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "F" "" "India" "" "0" "" "" "Karnataka" "" "00090252" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "" "India" "" "0" "" "" "Gujarat" "" "00090253" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "" "India" "" "0" "" "" "Uttar Pradesh" "" "00090254" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "" "India" "" "0" "" "" "Kerala" "" "00090255" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "" "India" "" "0" "" "" "Kerala" "" "00090256" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "" "India" "" "0" "" "" "Maharashtra" "" "00090257" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "M" "" "India" "" "0" "" "" "Gujarat" "" "00090258" "" "" "" "1" "" "01827" "{DOI:Warang 2015:10.1111/cge.12326}" "" "F" "" "India" "" "0" "" "" "Kerala" "" "00090259" "" "" "" "1" "" "00006" "{PMID:Dekker 2001:11159544}" "" "M" "" "" "" "0" "" "" "" "" "00090262" "" "" "" "1" "" "00006" "{PMID:Katsube 1991:1707593}, {PMID:Takeshita 1982:6896729}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Japan" "" "0" "" "" "" "" "00090263" "" "" "" "1" "" "00006" "{PMID:Katsube 1991:1707593}, {PMID:Tanishima 1985:4063522}" "3-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Japan" "" "0" "" "" "" "" "00090265" "" "" "" "1" "" "00006" "{PMID:Shirabe 1992:1400360}" "" "" "" "Japan" "" "0" "" "" "" "" "00090266" "" "" "" "1" "" "00006" "{PMID:Shirabe 1992:1400360}" "" "" "" "Japan" "" "0" "" "" "" "" "00275666" "" "" "" "4" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMCP77APat3" "00275667" "" "" "00275666" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMCP77APat5" "00275668" "" "" "00275666" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMCP77APat8" "00275669" "" "" "00275666" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMCP77BPat7" "00373737" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "" "" "iw266" "00374542" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0109" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 97 "{{individualid}}" "{{diseaseid}}" "00088191" "00139" "00088191" "01916" "00088193" "00139" "00088193" "01916" "00090172" "01916" "00090173" "01916" "00090174" "01916" "00090175" "01916" "00090176" "01916" "00090177" "01916" "00090178" "01916" "00090179" "01916" "00090180" "01916" "00090185" "01916" "00090186" "01916" "00090187" "01916" "00090188" "01916" "00090189" "01916" "00090190" "01916" "00090191" "01916" "00090192" "01916" "00090193" "01916" "00090194" "01916" "00090195" "01916" "00090196" "01916" "00090197" "01916" "00090198" "01916" "00090199" "01916" "00090200" "01916" "00090201" "01916" "00090202" "01916" "00090203" "01916" "00090204" "01916" "00090205" "01916" "00090206" "01916" "00090207" "01916" "00090208" "01916" "00090209" "01916" "00090211" "01916" "00090212" "01916" "00090213" "01916" "00090214" "01916" "00090215" "01916" "00090216" "01916" "00090217" "01916" "00090218" "01916" "00090219" "01916" "00090220" "01916" "00090221" "01916" "00090222" "01916" "00090223" "01916" "00090224" "01916" "00090225" "01916" "00090226" "01916" "00090227" "01916" "00090228" "01916" "00090229" "01916" "00090230" "01916" "00090231" "01916" "00090232" "01916" "00090233" "01916" "00090234" "01916" "00090235" "01916" "00090236" "01916" "00090237" "01916" "00090238" "01916" "00090239" "01916" "00090240" "01916" "00090241" "01916" "00090242" "01916" "00090243" "01916" "00090244" "01916" "00090245" "01916" "00090246" "01916" "00090247" "01916" "00090248" "01916" "00090249" "01916" "00090250" "01916" "00090251" "01916" "00090252" "01916" "00090253" "01916" "00090254" "01916" "00090255" "01916" "00090256" "01916" "00090257" "01916" "00090258" "01916" "00090259" "01916" "00090262" "01916" "00090263" "01916" "00090265" "01916" "00090266" "01916" "00275666" "00139" "00275667" "00139" "00275668" "00139" "00275669" "00139" "00373737" "01916" "00374542" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01916 ## Count = 97 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000067654" "01916" "00088191" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067655" "00139" "00088191" "01827" "Familial, autosomal recessive" "" "global developmental delay (HP:0001263); motor delay (HP:0001270); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000067656" "01916" "00088193" "01827" "Familial, autosomal recessive" "" "" "" "00y03m" "" "" "" "" "" "" "" "" "" "0000067657" "00139" "00088193" "01827" "Familial, autosomal recessive" "00y01m?" "severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270)" "" "" "" "" "" "" "" "" "" "" "" "0000069514" "01916" "00090172" "01827" "Familial, autosomal recessive" "42y" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069515" "01916" "00090173" "01827" "Familial, autosomal recessive" "13y" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069516" "01916" "00090174" "01827" "Familial, autosomal recessive" "35y" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069517" "01916" "00090175" "01827" "Familial, autosomal recessive" "1m" "methemoglobinemia type ?" "" "" "" "" "" "" "" "" "" "" "" "0000069518" "01916" "00090176" "01827" "Familial, autosomal recessive" "31y" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069519" "01916" "00090177" "01827" "Familial, autosomal recessive" "1y" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069520" "01916" "00090178" "01827" "Familial, autosomal recessive" "2m" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069521" "01916" "00090179" "01827" "Familial, autosomal recessive" "12y" "methemoglobinemia type I; see paper ..., all carriers have reduced MetHb reductase activity" "" "" "" "" "" "" "" "" "" "" "" "0000069522" "01916" "00090180" "01827" "Familial, autosomal recessive" "3m" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069523" "01916" "00090185" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069524" "01916" "00090186" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069525" "01916" "00090187" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069526" "01916" "00090188" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069527" "01916" "00090189" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; MetHb reductase 0.4/0.8 (IU/g Hb), see paper ...." "" "" "" "" "" "" "" "" "" "" "" "0000069528" "01916" "00090190" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069529" "01916" "00090191" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069530" "01916" "00090192" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069531" "01916" "00090193" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069532" "01916" "00090194" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069533" "01916" "00090195" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069534" "01916" "00090196" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069535" "01916" "00090197" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069536" "01916" "00090198" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069537" "01916" "00090199" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069538" "01916" "00090200" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069539" "01916" "00090201" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069540" "01916" "00090202" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069541" "01916" "00090203" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069542" "01916" "00090204" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; MetHb reductase 0.2 IU/g Hb; see paper ..." "" "" "" "" "" "" "" "" "" "" "" "0000069543" "01916" "00090205" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069544" "01916" "00090206" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II; NADH-Cytb5 reductase activity reduced to 0.02; see paper ...." "" "" "" "" "" "" "" "" "" "" "" "0000069545" "01916" "00090207" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069546" "01916" "00090208" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069547" "01916" "00090209" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069549" "01916" "00090211" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069550" "01916" "00090212" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069551" "01916" "00090213" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069552" "01916" "00090214" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069553" "01916" "00090215" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069554" "01916" "00090216" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069555" "01916" "00090217" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069556" "01916" "00090218" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069557" "01916" "00090219" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069558" "01916" "00090220" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II; see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000069559" "01916" "00090221" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069560" "01916" "00090222" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069561" "01916" "00090223" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069562" "01916" "00090224" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; MetHb reductase 0.1 (IU/g Hb); see paper ..." "" "" "" "" "" "" "" "" "" "" "" "0000069563" "01916" "00090225" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069564" "01916" "00090226" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069565" "01916" "00090227" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069566" "01916" "00090228" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069567" "01916" "00090229" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069568" "01916" "00090230" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069569" "01916" "00090231" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II" "" "" "" "" "" "" "" "" "" "" "" "0000069570" "01916" "00090232" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069571" "01916" "00090233" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; MetHb reductase 0.1/0.1 (IU/g Hb); see paper ..." "" "" "" "" "" "" "" "" "" "" "" "0000069572" "01916" "00090234" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069573" "01916" "00090235" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069574" "01916" "00090236" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069575" "01916" "00090237" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; MetHb reductase 0.1/0 (IU/g Hb); see paper ...." "" "" "" "" "" "" "" "" "" "" "" "0000069576" "01916" "00090238" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069577" "01916" "00090239" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069578" "01916" "00090240" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I" "" "" "" "" "" "" "" "" "" "" "" "0000069579" "01916" "00090241" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069580" "01916" "00090242" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069581" "01916" "00090243" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069582" "01916" "00090244" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069583" "01916" "00090245" "01827" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069584" "01916" "00090246" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069585" "01916" "00090247" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069586" "01916" "00090248" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069587" "01916" "00090249" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069588" "01916" "00090250" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069589" "01916" "00090251" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069590" "01916" "00090252" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069591" "01916" "00090253" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069592" "01916" "00090254" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069593" "01916" "00090255" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069594" "01916" "00090256" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type I; see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069595" "01916" "00090257" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II; see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069596" "01916" "00090258" "01827" "Familial, autosomal recessive" "" "methemoglobinemia type II; see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069597" "01916" "00090259" "00006" "Familial, autosomal recessive" "" "methemoglobinemia type I; MetHb reductase 0.2 IU/g Hb; see paper ...." "" "" "" "" "" "" "" "" "" "" "" "0000069600" "01916" "00090262" "00006" "Familial, autosomal recessive" "40y" "methemoglobinemia type I, cyanosis lips/oral mucosa/nail beds, not mentally retarded, see paper ..." "" "" "" "" "" "" "" "" "" "" "" "0000069601" "01916" "00090263" "00006" "Familial, autosomal recessive" "" "methemoglobinemia type III, 24y/26y both moderate cyanosis, without mental or neurological abnormalities, see paper ..." "" "" "" "" "" "" "" "" "" "" "" "0000069603" "01916" "00090265" "00006" "Familial, autosomal recessive" "" "methemoglobinemia type I, see paper ..." "" "" "" "" "" "" "" "" "" "" "" "0000069604" "01916" "00090266" "00006" "Familial, autosomal recessive" "" "methemoglobinemia type I, see paper ..." "" "" "" "" "" "" "" "" "" "" "" "0000210277" "00139" "00275666" "00006" "Familial, autosomal recessive" "15y" "OFC 47cm; IQ 30, severe intellectual disability (HP:0010864); microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210278" "00139" "00275667" "00006" "Familial, autosomal recessive" "12y" "OFC 45cm; IQ 30, severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210279" "00139" "00275668" "00006" "Familial, autosomal recessive" "13y" "OFC 46cm; IQ 30, severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210280" "00139" "00275669" "00006" "Familial, autosomal recessive" "14y" "OFC 49cm; IQ 60, mild intellectual disability (HP:0001256); delayed ambulation, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000268961" "01916" "00373737" "01864" "Familial, autosomal recessive" "" "HP:0001252; HP:0002151; HP:0001631; HP:0006892; HP:0002280; HP:0001263; HP:0025336; HP:0032989; HP:0001627; HP:0001629" "" "" "" "" "" "" "" "" "Methemoglobinemia (OMIM 250800)" "" "" "0000269752" "00198" "00374542" "00006" "Familial, autosomal recessive" "" "spastic diplegia, global developmental delay, gastro-esophageal reflux, esotropia and adducted thumbs" "" "" "" "" "" "" "" "" "" "spasticity" "" ## Screenings ## Do not remove or alter this header ## ## Count = 95 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000088334" "00088191" "1" "01827" "01827" "2016-11-24 16:14:26" "" "" "SEQ" "DNA" "Blood" "" "0000088336" "00088193" "1" "01827" "01827" "2016-11-24 16:49:07" "" "" "SEQ" "DNA" "Blood" "" "0000090316" "00090172" "1" "01827" "00006" "2016-12-09 15:09:15" "" "" "SEQ" "DNA" "" "" "0000090317" "00090173" "1" "01827" "00006" "2016-12-09 15:09:15" "" "" "SEQ" "DNA" "" "" "0000090318" "00090174" "1" "01827" "00006" "2016-12-09 15:09:15" "" "" "SEQ" "DNA" "" "" "0000090319" "00090175" "1" "01827" "00006" "2016-12-09 15:09:15" "" "" "SEQ" "DNA" "" "" "0000090320" "00090176" "1" "01827" "00006" "2016-12-09 15:09:15" "" "" "SEQ" "DNA" "" "" "0000090321" "00090177" "1" "01827" "00006" "2016-12-09 15:09:15" "" "" "SEQ" "DNA" "" "" "0000090322" "00090178" "1" "01827" "00006" "2016-12-09 15:09:15" "" "" "SEQ" "DNA" "" "" "0000090323" "00090179" "1" "01827" "00006" "2016-12-09 15:09:15" "" "" "SEQ" "DNA" "" "" "0000090324" "00090180" "1" "01827" "00006" "2016-12-09 15:09:15" "" "" "SEQ" "DNA" "" "" "0000090330" "00090185" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090331" "00090186" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090332" "00090187" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090333" "00090188" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090334" "00090189" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090335" "00090190" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090336" "00090191" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090337" "00090192" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090338" "00090193" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090339" "00090194" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090340" "00090195" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090341" "00090196" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090342" "00090197" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090343" "00090198" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090344" "00090199" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090345" "00090200" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090346" "00090201" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090347" "00090202" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090348" "00090203" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090349" "00090204" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090350" "00090205" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090351" "00090206" "1" "01827" "00006" "2016-12-09 17:23:09" "00006" "2016-12-10 10:53:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000090352" "00090207" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090353" "00090208" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090354" "00090209" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090356" "00090211" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090357" "00090212" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090358" "00090213" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090359" "00090214" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090360" "00090215" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090361" "00090216" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090362" "00090217" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090363" "00090218" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090364" "00090219" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090365" "00090220" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090366" "00090221" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090367" "00090222" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090368" "00090223" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090369" "00090224" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090370" "00090225" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090371" "00090226" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090372" "00090227" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090373" "00090228" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090374" "00090229" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090375" "00090230" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090376" "00090231" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090377" "00090232" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090378" "00090233" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090379" "00090234" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090380" "00090235" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090381" "00090236" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090382" "00090237" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090383" "00090238" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090384" "00090239" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090385" "00090240" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090386" "00090241" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090387" "00090242" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090388" "00090243" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090389" "00090244" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090390" "00090245" "1" "01827" "00006" "2016-12-09 17:23:09" "" "" "SEQ" "DNA" "" "" "0000090391" "00090246" "1" "01827" "00006" "2016-12-09 19:36:53" "" "" "SEQ" "DNA" "" "" "0000090392" "00090247" "1" "01827" "00006" "2016-12-09 19:36:53" "" "" "SEQ" "DNA" "" "" "0000090393" "00090248" "1" "01827" "00006" "2016-12-09 19:36:53" "" "" "SEQ" "DNA" "" "" "0000090394" "00090249" "1" "01827" "00006" "2016-12-09 19:36:53" "" "" "SEQ" "DNA" "" "" "0000090395" "00090250" "1" "01827" "00006" "2016-12-09 19:36:53" "" "" "SEQ" "DNA" "" "" "0000090396" "00090251" "1" "01827" "00006" "2016-12-09 19:36:53" "" "" "SEQ" "DNA" "" "" "0000090397" "00090252" "1" "01827" "00006" "2016-12-09 19:36:53" "" "" "SEQ" "DNA" "" "" "0000090398" "00090253" "1" "01827" "00006" "2016-12-09 19:36:53" "" "" "SEQ" "DNA" "" "" "0000090399" "00090254" "1" "01827" "00006" "2016-12-09 19:36:53" "" "" "SEQ" "DNA" "" "" "0000090400" "00090255" "1" "01827" "00006" "2016-12-09 19:36:53" "" "" "SEQ" "DNA" "" "" "0000090401" "00090256" "1" "01827" "00006" "2016-12-09 19:36:53" "" "" "SEQ" "DNA" "" "" "0000090402" "00090257" "1" "01827" "00006" "2016-12-09 19:36:53" "" "" "SEQ" "DNA" "" "" "0000090403" "00090258" "1" "01827" "00006" "2016-12-09 19:36:53" "" "" "SEQ" "DNA" "" "" "0000090404" "00090259" "1" "00006" "00006" "2016-12-09 20:13:26" "" "" "SEQ" "DNA" "" "" "0000090407" "00090262" "1" "00006" "00006" "2016-12-10 11:10:57" "" "" "SEQ" "DNA" "" "" "0000090408" "00090263" "1" "00006" "00006" "2016-12-10 11:21:03" "" "" "SEQ" "DNA" "" "" "0000090410" "00090265" "1" "00006" "00006" "2016-12-10 11:44:16" "" "" "SEQ" "DNA" "" "" "0000090411" "00090266" "1" "00006" "00006" "2016-12-10 11:47:54" "" "" "SEQ" "DNA" "" "" "0000276824" "00275666" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276825" "00275667" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276826" "00275668" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276827" "00275669" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374970" "00373737" "1" "01864" "01864" "2021-05-19 16:03:47" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000375736" "00374542" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 99 "{{screeningid}}" "{{geneid}}" "0000088334" "CYB5R3" "0000088336" "CYB5R3" "0000090316" "CYB5R3" "0000090317" "CYB5R3" "0000090318" "CYB5R3" "0000090319" "CYB5R3" "0000090320" "CYB5R3" "0000090321" "CYB5R3" "0000090322" "CYB5R3" "0000090323" "CYB5R3" "0000090324" "CYB5R3" "0000090330" "CYB5R3" "0000090331" "CYB5R3" "0000090332" "CYB5R3" "0000090333" "CYB5R3" "0000090334" "CYB5R3" "0000090335" "CYB5R3" "0000090336" "CYB5R3" "0000090337" "CYB5R3" "0000090338" "CYB5R3" "0000090339" "CYB5R3" "0000090340" "CYB5R3" "0000090341" "CYB5R3" "0000090342" "CYB5R3" "0000090343" "CYB5R3" "0000090344" "CYB5R3" "0000090345" "CYB5R3" "0000090346" "CYB5R3" "0000090347" "CYB5R3" "0000090348" "CYB5R3" "0000090349" "CYB5R3" "0000090350" "CYB5R3" "0000090351" "CYB5R3" "0000090352" "CYB5R3" "0000090353" "CYB5R3" "0000090354" "CYB5R3" "0000090356" "CYB5R3" "0000090357" "CYB5R3" "0000090358" "CYB5R3" "0000090359" "CYB5R3" "0000090360" "CYB5R3" "0000090361" "CYB5R3" "0000090362" "CYB5R3" "0000090363" "CYB5R3" "0000090364" "CYB5R3" "0000090365" "CYB5R3" "0000090366" "CYB5R3" "0000090367" "CYB5R3" "0000090368" "CYB5R3" "0000090369" "CYB5R3" "0000090370" "CYB5R3" "0000090371" "CYB5R3" "0000090372" "CYB5R3" "0000090373" "CYB5R3" "0000090374" "CYB5R3" "0000090375" "CYB5R3" "0000090376" "CYB5R3" "0000090377" "CYB5R3" "0000090378" "CYB5R3" "0000090379" "CYB5R3" "0000090380" "CYB5R3" "0000090381" "CYB5R3" "0000090382" "CYB5R3" "0000090383" "CYB5R3" "0000090384" "CYB5R3" "0000090385" "CYB5R3" "0000090386" "CYB5R3" "0000090387" "CYB5R3" "0000090388" "CYB5R3" "0000090389" "CYB5R3" "0000090390" "CYB5R3" "0000090391" "CYB5R3" "0000090392" "CYB5R3" "0000090393" "CYB5R3" "0000090394" "CYB5R3" "0000090395" "CYB5R3" "0000090396" "CYB5R3" "0000090397" "CYB5R3" "0000090398" "CYB5R3" "0000090399" "CYB5R3" "0000090400" "CYB5R3" "0000090401" "CYB5R3" "0000090402" "CYB5R3" "0000090403" "CYB5R3" "0000090404" "CYB5R3" "0000090407" "CYB5R3" "0000090408" "CYB5R3" "0000090410" "CYB5R3" "0000090411" "CYB5R3" "0000276824" "CYB5R3" "0000276824" "WDR62" "0000276825" "CYB5R3" "0000276825" "WDR62" "0000276826" "CYB5R3" "0000276826" "WDR62" "0000276827" "CYB5R3" "0000276827" "WDR62" "0000374970" "CYB5R3" "0000375736" "CYB5R3" ## 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 = 129 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000146001" "21" "90" "22" "43024238" "43024238" "subst" "0" "01827" "CYB5R3_000001" "g.43024238G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42628232G>A" "" "pathogenic" "" "0000146004" "11" "99" "22" "43015860" "43015860" "dup" "0" "01827" "CYB5R3_000002" "g.43015860dup" "" "" "" "" "" "Germline" "" "rs750819571" "0" "" "" "g.42619854dup" "" "pathogenic" "" "0000146007" "3" "90" "22" "43015941" "43015941" "subst" "0" "01827" "CYB5R3_000003" "g.43015941G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42619935G>C" "" "pathogenic" "" "0000148437" "1" "90" "22" "43032726" "43032726" "subst" "1.65744E-5" "01827" "CYB5R3_000004" "g.43032726G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42636720G>A" "" "pathogenic" "" "0000148438" "1" "99" "22" "43027435" "43027435" "subst" "1.34163E-5" "01827" "CYB5R3_000005" "g.43027435G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42631429G>A" "" "pathogenic" "" "0000148439" "1" "90" "22" "43027434" "43027434" "subst" "7.37948E-5" "01827" "CYB5R3_000006" "g.43027434C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42631428C>T" "" "pathogenic" "" "0000148440" "1" "90" "22" "43027428" "43027428" "subst" "6.7088E-6" "01827" "CYB5R3_000007" "g.43027428C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42631422C>G" "" "pathogenic" "" "0000148441" "2" "90" "22" "43027428" "43027428" "subst" "6.7088E-6" "01827" "CYB5R3_000007" "g.43027428C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42631422C>G" "" "pathogenic" "" "0000148442" "3" "90" "22" "43027387" "43027387" "subst" "0" "01827" "CYB5R3_000008" "g.43027387C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42631381C>A" "" "pathogenic" "" "0000148443" "1" "90" "22" "43024238" "43024238" "subst" "0" "01827" "CYB5R3_000001" "g.43024238G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42628232G>A" "" "pathogenic" "" "0000148444" "2" "99" "22" "43024207" "43024208" "del" "0" "01827" "CYB5R3_000009" "g.43024207_43024208del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42628201_42628202del" "" "pathogenic" "" "0000148445" "1" "90" "22" "43024193" "43024193" "subst" "0" "01827" "CYB5R3_000010" "g.43024193C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42628187C>G" "" "pathogenic" "" "0000148446" "3" "90" "22" "43024187" "43024187" "subst" "1.62433E-5" "01827" "CYB5R3_000011" "g.43024187G>A" "" "{PMID:Dekker 2001:11159544}" "" "C434T (P144L)" "" "Germline" "" "" "0" "" "" "g.42628181G>A" "" "pathogenic" "" "0000148447" "2" "90" "22" "43019815" "43019815" "subst" "0" "01827" "CYB5R3_000012" "g.43019815G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42623809G>C" "" "pathogenic" "" "0000148448" "3" "90" "22" "43015941" "43015941" "subst" "0" "01827" "CYB5R3_000003" "g.43015941G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42619935G>C" "" "pathogenic" "" "0000148449" "2" "90" "22" "43015909" "43015909" "subst" "0" "01827" "CYB5R3_000013" "g.43015909C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42619903C>G" "" "pathogenic" "" "0000148450" "2" "90" "22" "43015860" "43015860" "dup" "0" "01827" "CYB5R3_000002" "g.43015860dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42619854dup" "" "pathogenic" "" "0000148454" "0" "99" "22" "43032792" "43032792" "subst" "0" "01827" "CYB5R3_000071" "g.43032792G>A" "" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}\r\nPMID: 18343696" "" "Gln27STOP" "check combination variants" "Germline" "" "" "0" "" "" "g.42636786G>A" "" "pathogenic" "" "0000148455" "0" "99" "22" "43032745" "43032745" "subst" "0" "01827" "CYB5R3_000070" "g.43032745G>T" "" "{PMID:Manabe 1996:8874222}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42636739G>T" "" "pathogenic" "" "0000148456" "0" "99" "22" "43032738" "43032738" "subst" "8.23045E-6" "01827" "CYB5R3_000069" "g.43032738G>A" "" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}" "" "Arg45Trp" "check combination variants" "Germline" "" "rs753499270" "0" "" "" "g.42636732G>A" "" "pathogenic" "" "0000148457" "1" "90" "22" "43032726" "43032726" "subst" "1.65744E-5" "01827" "CYB5R3_000004" "g.43032726G>A" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "" "" "Germline" "" "" "0" "" "" "g.42636720G>A" "" "pathogenic" "" "0000148458" "11" "90" "22" "43032725" "43032725" "subst" "2.07311E-5" "01827" "CYB5R3_000025" "g.43032725C>T" "" "{PMID:Dekker 2001:11159544}" "" "G149A (R49Q)" "" "Germline" "" "" "0" "" "" "g.42636719C>T" "" "pathogenic" "" "0000148459" "0" "99" "22" "43032720" "43032720" "subst" "0" "01827" "CYB5R3_000068" "g.43032720C>T" "" "{DOI:Ewenczyk 2008:10.1093/brain/awm337}" "" "IVS2, DS, G-A,+1 (Case 6)" "check combination variants" "Germline" "" "" "0" "" "" "g.42636714C>T" "" "pathogenic" "" "0000148460" "0" "99" "22" "43027448" "43027448" "subst" "0" "01827" "CYB5R3_000067" "g.43027448G>C" "" "{DOI:Lorenzo 2011:10.1016/j.bcmd.2011.01.005}" "" "NG_012194.1:g.17958C>G" "check combination variants" "Germline" "" "" "0" "" "" "g.42631442G>C" "" "pathogenic" "" "0000148461" "0" "97" "22" "43027438" "43027438" "subst" "1.34167E-5" "01827" "CYB5R3_000066" "g.43027438G>A" "" "{DOI:Kedar 2014:10.1016/j.cca.2014.07.015}" "" "p.Arg57Trp (start ATG=0)" "Kedar et al. 2014: Two homozygous siblings with chloroquine induced methemoglobinemia. Both parents are heterozygous carriers of the same mutation. NADH-cyb5R activity reduced to 16 and 20 (IU/gHb) respectively (Refernece range 30 to 40 (IU/gHb)." "Germline" "" "rs1302856929" "0" "" "" "g.42631432G>A" "" "pathogenic (recessive)" "" "0000148462" "0" "99" "22" "43027437" "43027437" "subst" "4.02522E-5" "01827" "CYB5R3_000017" "g.43027437C>T" "" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}" "" "" "check combination variants" "Germline" "" "rs121965007" "0" "" "" "g.42631431C>T" "" "pathogenic" "" "0000148463" "21" "90" "22" "43027437" "43027437" "subst" "6.70871E-6" "01827" "CYB5R3_000065" "g.43027437C>G" "" "{DOI:Cooper 2016:10.1002/pbc.25791}\r\n{PMID:Percy 2012:22627575}" "" "" "3-year old male with a CYB5R3 compound heterozygous mutation. Maternally inherited c.173G>C, p.(Arg58Pro) and paternally inherited c.226G>A, p.(Gly76Ser). He has been described as having a “milder” form of RCM type II." "Germline" "" "rs121965007" "0" "" "" "g.42631431C>G" "" "pathogenic" "" "0000148464" "0" "90" "22" "43027416" "43027416" "subst" "0" "01827" "CYB5R3_000026" "g.43027416G>A" "" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42631410G>A" "" "pathogenic" "" "0000148465" "0" "90" "22" "43027392" "43027392" "subst" "2.01423E-5" "01827" "CYB5R3_000064" "g.43027392A>G" "" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42631386A>G" "" "pathogenic" "" "0000148466" "0" "90" "22" "43027384" "43027384" "subst" "1.34354E-5" "01827" "CYB5R3_000018" "g.43027384C>T" "" "{DOI:Percy 2006:10.1016/j.bcmd.2005.10.001}, {PMID:Percy 2006:16310381}" "" "G75S" "check combination variants" "Germline" "" "" "0" "" "" "g.42631378C>T" "" "pathogenic" "" "0000148467" "0" "90" "22" "43026992" "43026992" "subst" "0" "01827" "CYB5R3_000063" "g.43026992G>A" "" "{PMID:Aalfs 2000:10874300}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42630986G>A" "" "pathogenic" "" "0000148468" "0" "90" "22" "43026971" "43026971" "subst" "8.14511E-6" "01827" "CYB5R3_000062" "g.43026971G>A" "" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42630965G>A" "" "pathogenic" "" "0000148469" "0" "90" "22" "43026934" "43026934" "subst" "0" "01827" "CYB5R3_000061" "g.43026934G>T" "" "{PMID:Manabe 1996:08874222}" "" "codon 95 CCC>CAC" "check combination variants" "Germline" "" "" "0" "" "" "g.42630928G>T" "" "pathogenic" "" "0000148470" "3" "90" "22" "43026905" "43026905" "subst" "2.0445E-5" "01827" "CYB5R3_000032" "g.43026905C>T" "" "{PMID:Shirabe 1992:01400360}, {OMIM613213:0004}" "" "G>A (Val105Met)" "" "Germline" "" "rs121965009" "0" "" "" "g.42630899C>T" "" "pathogenic" "" "0000148471" "0" "90" "22" "43026889" "43026889" "subst" "0" "01827" "CYB5R3_000060" "g.43026889T>A" "" "{DOI:Ewenczyk 2008:10.1093/brain/awm337}" "" "Lys111Met" "check combination variants" "Germline" "" "" "0" "" "" "g.42630883T>A" "" "pathogenic" "" "0000148472" "0" "90" "22" "43024289" "43024289" "subst" "0" "01827" "CYB5R3_000059" "g.43024289T>C" "" "{DOI:Kugler 2001:10.1002/humu.31}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42628283T>C" "" "pathogenic" "" "0000148473" "21" "90" "22" "43024288" "43024288" "subst" "8.12229E-6" "01827" "CYB5R3_000027" "g.43024288C>T" "" "{PMID:Dekker 2001:11159544}" "" "IVS4-1G>A" "" "Germline" "" "" "0" "" "" "g.42628282C>T" "" "pathogenic" "" "0000148474" "0" "90" "22" "43024242" "43024242" "subst" "4.06058E-6" "01827" "CYB5R3_000058" "g.43024242T>C" "" "{DOI:Fermo 2008:10.1016/j.bcmd.2008.02.002}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42628236T>C" "" "pathogenic" "" "0000148475" "3" "90" "22" "43024239" "43024239" "subst" "4.06058E-6" "01827" "CYB5R3_000030" "g.43024239A>G" "" "{PMID:Kobayashi 1990:02107882}, {OMIM613213:0001}" "" "T>C (Ser127Pro)" "" "Germline" "yes" "rs121965006" "0" "" "" "g.42628233A>G" "" "pathogenic" "" "0000148476" "0" "90" "22" "43024229" "43024229" "subst" "0" "01827" "CYB5R3_000057" "g.43024229A>G" "" "{DOI:Ewenczyk 2008:10.1093/brain/awm337}" "" "Leu131Pro" "check combination variants" "Germline" "" "" "0" "" "" "g.42628223A>G" "" "pathogenic" "" "0000148477" "0" "90" "22" "43024190" "43024190" "subst" "4.06091E-6" "01827" "CYB5R3_000056" "g.43024190C>T" "" "{DOI:Kedar 2008:10.1016/j.bcmd.2007.09.006}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42628184C>T" "" "pathogenic" "" "0000148478" "3" "90" "22" "43024188" "43024188" "subst" "0" "01827" "CYB5R3_000015" "g.43024188G>A" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "" "" "Germline" "" "" "0" "" "" "g.42628182G>A" "" "pathogenic" "" "0000148480" "0" "90" "22" "43024175" "43024175" "subst" "8.12156E-6" "01827" "CYB5R3_000031" "g.43024175A>G" "" "{DOI:Percy and Lappin 2008:10.1111/j.1365-2141.2008.07017.x}, {PMID:Percy and Lappin 2008:18318771}" "" "Leu148Pro" "check combination variants" "Germline" "" "" "0" "" "" "g.42628169A>G" "" "pathogenic" "" "0000148481" "3" "90" "22" "43023694" "43023694" "subst" "8.12196E-6" "01827" "CYB5R3_000016" "g.43023694C>T" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "461G>A (Gly155Glu)" "" "Germline" "" "" "0" "" "" "g.42627688C>T" "" "pathogenic" "" "0000148482" "0" "90" "22" "43024159" "43024159" "subst" "0" "01827" "CYB5R3_000055" "g.43024159T>G" "" "{PMID:Maran 2005:15921385}" "" "IVS 5 -2" "check combination variants" "Germline" "" "" "0" "" "" "g.42628153T>G" "" "pathogenic" "" "0000148483" "0" "90" "22" "43024156" "43024156" "subst" "4.06134E-6" "01827" "CYB5R3_000054" "g.43024156A>G" "" "{DOI:Yilmaz 2005:10.1002/ajmg.a.30467}" "" "IVS 5 +2" "check combination variants" "Germline" "" "" "0" "" "" "g.42628150A>G" "" "pathogenic" "" "0000148484" "0" "90" "22" "43024150" "43024150" "subst" "0" "01827" "CYB5R3_000053" "g.43024150C>G" "" "{PMID:Vieira 1995:07718898}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42628144C>G" "" "pathogenic" "" "0000148485" "0" "90" "22" "43023696" "43023696" "subst" "8.12203E-6" "01827" "CYB5R3_000052" "g.43023696T>G" "" "{PMID:Owen 1997:09266404}" "" "intron 5 splice acceptor CCCCAG>CCCCCG" "check combination variants" "Germline" "" "" "0" "" "" "g.42627690T>G" "" "pathogenic" "" "0000148486" "1" "90" "22" "43027437" "43027437" "subst" "4.02522E-5" "01827" "CYB5R3_000017" "g.43027437C>T" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "" "" "Germline" "" "" "0" "" "" "g.42631431C>T" "" "pathogenic" "" "0000148487" "0" "90" "22" "43023688" "43023688" "subst" "0" "01827" "CYB5R3_000051" "g.43023688A>C" "" "{DOI:Lorenzo 2011:10.1016/j.bcmd.2011.01.005}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42627682A>C" "" "pathogenic" "" "0000148488" "0" "90" "22" "43023680" "43023680" "subst" "2.43645E-5" "01827" "CYB5R3_000049" "g.43023680G>A" "" "{PMID:Aalfs 2000:10874300}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42627674G>A" "" "pathogenic" "" "0000148489" "3" "90" "22" "43023636" "43023644" "del" "0" "01827" "CYB5R3_000023" "g.43023636_43023644del" "" "{DOI:Warang 2015:10.1016/j.ymgmr.2015.10.002}" "" "c.517_525delAAGTCTGTG" "" "Germline" "" "" "0" "" "" "g.42627630_42627638del" "" "pathogenic" "" "0000148490" "0" "90" "22" "43023644" "43023644" "subst" "0" "01827" "CYB5R3_000048" "g.43023644C>G" "" "{DOI:Rawa 2013: 10.1159/000347041}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42627638C>G" "" "pathogenic" "" "0000148491" "3" "90" "22" "43023627" "43023627" "subst" "0" "01827" "CYB5R3_000019" "g.43023627C>T" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "" "" "Germline" "" "" "0" "" "" "g.42627621C>T" "" "pathogenic" "" "0000148492" "0" "90" "22" "43023625" "43023625" "subst" "0" "01827" "CYB5R3_000020" "g.43023625A>G" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "530T>C (Ile178Thr)" "" "Germline" "" "" "0" "" "" "g.42627619A>G" "" "pathogenic" "" "0000148493" "3" "90" "22" "43023623" "43023623" "subst" "6.09117E-5" "01827" "CYB5R3_000014" "g.43023623C>T" "" "{PMID:Dekker 2001:11159544}" "" "G535A (A178T)" "" "Germline" "" "" "0" "" "" "g.42627617C>T" "" "pathogenic" "" "0000148494" "0" "90" "22" "43023610" "43023610" "subst" "4.06098E-6" "01827" "CYB5R3_000047" "g.43023610C>T" "" "{PMID:Maran 2005:15921385}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42627604C>T" "" "pathogenic" "" "0000148495" "0" "90" "22" "43023333" "43023333" "subst" "4.06835E-6" "01827" "CYB5R3_000046" "g.43023333A>G" "" "{PMID:Maran 2005:15921385}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42627327A>G" "" "pathogenic" "" "0000148496" "0" "90" "22" "43023332" "43023332" "subst" "5.28976E-5" "01827" "CYB5R3_000045" "g.43023332C>T" "" "{PMID:Wang 2000:10807796}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42627326C>T" "" "pathogenic" "" "0000148497" "0" "90" "22" "43019891" "43019891" "subst" "0.000252082" "01827" "CYB5R3_000044" "g.43019891C>T" "" "{PMID:Jenkins and Prchal 1996:08639921}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42623885C>T" "" "pathogenic" "" "0000148498" "0" "90" "22" "43019875" "43019875" "subst" "0" "01827" "CYB5R3_000043" "g.43019875A>G" "" "{PMID:Nussenzweig 2006:17082011}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42623869A>G" "" "pathogenic" "" "0000148499" "0" "90" "22" "43019873" "43019873" "subst" "0" "01827" "CYB5R3_000042" "g.43019873G>A" "" "{PMID:Vieira 1995:7718898}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42623867G>A" "" "pathogenic" "" "0000148500" "3" "90" "22" "43019820" "43019820" "subst" "1.21879E-5" "01827" "CYB5R3_000021" "g.43019820C>T" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "" "" "Germline" "" "" "0" "" "" "g.42623814C>T" "" "pathogenic" "" "0000148501" "3" "90" "22" "43019815" "43019815" "subst" "3.65681E-5" "01827" "CYB5R3_000022" "g.43019815G>A" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "" "" "Germline" "" "" "0" "" "" "g.42623809G>A" "" "pathogenic" "" "0000148502" "0" "90" "22" "43019812" "43019812" "subst" "4.06322E-6" "01827" "CYB5R3_000028" "g.43019812A>C" "" "{PMID:Dekker 2001:11159544}" "" "L238R" "check combination variants" "Germline" "" "" "0" "" "" "g.42623806A>C" "" "pathogenic" "" "0000148503" "0" "90" "22" "43019809" "43019809" "subst" "4.87623E-5" "01827" "CYB5R3_000041" "g.43019809T>C" "" "{DOI:Percy 2005:10.1111/j.1365-2141.2005.05526.x}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42623803T>C" "" "pathogenic" "" "0000148504" "0" "90" "22" "43019807" "43019807" "subst" "0" "01827" "CYB5R3_000040" "g.43019807T>C" "" "{DOI:Toelle 2004:10.1007/s00431-004-1409-x} ,{PMID:Toelle 2004:14986124}" "" "Arg240Gly" "check combination variants" "Germline" "" "" "0" "" "" "g.42623801T>C" "" "pathogenic" "" "0000148505" "0" "90" "22" "43015952" "43015952" "subst" "0" "01827" "CYB5R3_000039" "g.43015952C>A" "" "{PMID:Shirabe 1995:07668255}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42619946C>A" "" "pathogenic" "" "0000148506" "3" "90" "22" "43015928" "43015928" "subst" "7.4636E-5" "01827" "CYB5R3_000029" "g.43015928C>T" "" "{PMID:Dekker 2001:11159544}" "" "G757A (V252M)" "" "Germline" "" "" "0" "" "" "g.42619922C>T" "" "pathogenic" "" "0000148507" "0" "90" "22" "43015920" "43015922" "del" "0" "01827" "CYB5R3_000038" "g.43015920_43015922del" "" "{DOI:Percy 2002:10.1182/blood-2002-05-1405 }" "" "Glu255Del" "check combination variants" "Germline" "" "" "0" "" "" "g.42619914_42619916del" "" "pathogenic" "" "0000148508" "0" "90" "22" "43015910" "43015910" "subst" "3.8714E-5" "01827" "CYB5R3_000037" "g.43015910G>A" "" "{PMID:Maran 2005:15921385}" "" "" "check combination variants" "Germline" "" "" "0" "" "" "g.42619904G>A" "" "pathogenic" "" "0000148509" "0" "90" "22" "43015887" "43015889" "del" "0" "01827" "CYB5R3_000036" "g.43015887_43015889del" "" "{DOI:Forestier 2015:10.3109/03630269.2015.1065882}" "" "802_804delGAG" "check combination variants" "Germline" "" "" "0" "" "" "g.42619881_42619883del" "" "pathogenic" "" "0000148510" "0" "90" "22" "43015879" "43015879" "subst" "1.71484E-5" "01827" "CYB5R3_000035" "g.43015879G>A" "" "{PMID:Galeeva 2013:23866629}" "" "" "check combination variants" "Germline" "" "rs754251915" "0" "" "" "g.42619873G>A" "" "pathogenic" "" "0000148511" "0" "90" "22" "43015868" "43015870" "del" "0" "01827" "CYB5R3_000034" "g.43015868_43015870del" "" "{PMID:Vieira 1995:07718898}" "" "c.817_819delAT" "check combination variants" "Germline" "" "" "0" "" "" "g.42619862_42619864del" "" "pathogenic" "" "0000148512" "0" "90" "22" "43015810" "43015810" "subst" "0" "01827" "CYB5R3_000033" "g.43015810C>T" "" "{DOI:Percy 2002:10.1182/blood-2002-05-1405 }" "" "Gly291Asp" "check combination variants" "Germline" "" "" "0" "" "" "g.42619804C>T" "" "pathogenic" "" "0000148513" "0" "90" "22" "43015801" "43015803" "delins" "0" "01827" "CYB5R3_000073" "g.43015801_43015803delinsTT" "" "{DOI:Leroux 2005:10.1111/j.1600-0609.2004.00388.x}, {PMID:Leroux 2005:15813912}" "" "882_884delCACinsAA" "check combination variants" "Germline" "" "" "0" "" "" "g.42619795_42619797delinsTT" "" "pathogenic" "" "0000148514" "0" "90" "22" "43015789" "43015791" "del" "0" "01827" "CYB5R3_000072" "g.43015789_43015791del" "" "{PMID:Shirabe 1994:08119939}" "" "895_897delTTC (Phe298del)" "check combination variants" "Germline" "" "" "0" "" "" "g.42619783_42619785del" "" "pathogenic" "" "0000148515" "2" "90" "22" "43023623" "43023623" "subst" "6.09117E-5" "01827" "CYB5R3_000014" "g.43023623C>T" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "536G>A" "" "Germline" "" "" "0" "" "" "g.42627617C>T" "" "pathogenic" "" "0000148516" "2" "90" "22" "43027384" "43027384" "subst" "1.34354E-5" "01827" "CYB5R3_000018" "g.43027384C>T" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "" "" "Germline" "" "" "0" "" "" "g.42631378C>T" "" "pathogenic" "" "0000148517" "3" "90" "22" "43023625" "43023625" "subst" "0" "01827" "CYB5R3_000020" "g.43023625A>G" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "530T>C (Ile178Thr)" "" "Germline" "" "" "0" "" "" "g.42627619A>G" "" "pathogenic" "" "0000148518" "3" "90" "22" "43023625" "43023625" "subst" "0" "01827" "CYB5R3_000020" "g.43023625A>G" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "530T>C (Ile178Thr)" "" "Germline" "" "" "0" "" "" "g.42627619A>G" "" "pathogenic" "" "0000148519" "3" "90" "22" "43015928" "43015928" "subst" "7.4636E-5" "01827" "CYB5R3_000029" "g.43015928C>T" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "V252M" "" "Germline" "" "" "0" "" "" "g.42619922C>T" "" "pathogenic" "" "0000148520" "1" "90" "22" "43023625" "43023625" "subst" "0" "01827" "CYB5R3_000020" "g.43023625A>G" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "530T>C (Ile178Thr)" "" "Germline" "" "" "0" "" "" "g.42627619A>G" "" "pathogenic" "" "0000148521" "3" "90" "22" "43023629" "43023629" "subst" "0" "01827" "CYB5R3_000024" "g.43023629T>C" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "531G>A (Met177Val)" "" "Germline" "" "" "0" "" "" "g.42627623T>C" "" "pathogenic" "" "0000148522" "3" "90" "22" "43023625" "43023625" "subst" "0" "01827" "CYB5R3_000020" "g.43023625A>G" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "530T>C (Ile178Thr)" "" "Germline" "" "" "0" "" "" "g.42627619A>G" "" "pathogenic" "" "0000148523" "3" "90" "22" "43023629" "43023629" "subst" "0" "01827" "CYB5R3_000024" "g.43023629T>C" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "531G>A (Met177Val)" "" "Germline" "" "" "0" "" "" "g.42627623T>C" "" "pathogenic" "" "0000148524" "3" "90" "22" "43032726" "43032726" "subst" "1.65744E-5" "01827" "CYB5R3_000004" "g.43032726G>A" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "" "" "Germline" "" "" "0" "" "" "g.42636720G>A" "" "pathogenic" "" "0000148525" "3" "90" "22" "43032726" "43032726" "subst" "1.65744E-5" "01827" "CYB5R3_000004" "g.43032726G>A" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "" "" "Germline" "" "" "0" "" "" "g.42636720G>A" "" "pathogenic" "" "0000148526" "3" "90" "22" "43023681" "43023681" "subst" "0" "01827" "CYB5R3_000050" "g.43023681G>C" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000148527" "3" "90" "22" "43023625" "43023625" "subst" "0" "01827" "CYB5R3_000020" "g.43023625A>G" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "530T>C (Ile178Thr)" "" "Germline" "" "" "0" "" "" "g.42627619A>G" "" "pathogenic" "" "0000148528" "3" "90" "22" "43027384" "43027384" "subst" "1.34354E-5" "01827" "CYB5R3_000018" "g.43027384C>T" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "G75S" "" "Germline" "" "" "0" "" "" "g.42631378C>T" "" "pathogenic" "" "0000148529" "3" "90" "22" "43027384" "43027384" "subst" "1.34354E-5" "01827" "CYB5R3_000018" "g.43027384C>T" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "G75S" "" "Germline" "" "" "0" "" "" "g.42631378C>T" "" "pathogenic" "" "0000148530" "2" "90" "22" "43032726" "43032726" "subst" "1.65744E-5" "01827" "CYB5R3_000004" "g.43032726G>A" "" "{DOI:Warang 2015:10.1111/cge.12326}" "" "" "" "Germline" "" "" "0" "" "" "g.42636720G>A" "" "pathogenic" "" "0000148531" "21" "90" "22" "43027416" "43027416" "subst" "0" "01827" "CYB5R3_000026" "g.43027416G>A" "" "{PMID:Dekker 2001:11159544}" "" "C194T (P64L)" "" "Germline" "" "" "0" "" "" "g.42631410G>A" "" "pathogenic" "" "0000148532" "11" "90" "22" "43019812" "43019812" "subst" "4.06322E-6" "01827" "CYB5R3_000028" "g.43019812A>C" "" "{PMID:Dekker 2001:11159544}" "" "T716G (L238R)" "" "Germline" "" "" "0" "" "" "g.42623806A>C" "" "pathogenic" "" "0000148533" "3" "90" "22" "43015928" "43015928" "subst" "7.4636E-5" "00006" "CYB5R3_000029" "g.43015928C>T" "" "{PMID:Dekker 2001:11159544}" "" "G757A (V252M)" "" "Germline" "" "" "0" "" "" "g.42619922C>T" "" "pathogenic" "" "0000148536" "3" "90" "22" "43027437" "43027437" "subst" "4.02522E-5" "00006" "CYB5R3_000017" "g.43027437C>T" "" "{PMID:Katsube 1991:01707593}, {OMIM613213:0002}" "MspI-" "G>A (Arg57Gln)" "not in 88 control chromosomes" "Germline" "" "rs121965007" "0" "" "" "g.42631431C>T" "" "pathogenic" "" "0000148537" "3" "90" "22" "43024175" "43024175" "subst" "8.12156E-6" "00006" "CYB5R3_000031" "g.43024175A>G" "" "{PMID:Katsube 1991:01707593}, {OMIM613213:0003}" "MspI+" "T>C (Leu148Pro)" "not in 92 control chromosomes" "Germline" "yes" "rs121965008" "0" "" "" "g.42628169A>G" "" "pathogenic" "" "0000148539" "3" "90" "22" "43027437" "43027437" "subst" "4.02522E-5" "00006" "CYB5R3_000017" "g.43027437C>T" "" "{PMID:Shirabe 1992:01400360}" "HpaII-" "G>A (Arg57Gln)" "" "Germline" "" "" "0" "" "" "g.42631431C>T" "" "pathogenic" "" "0000148540" "3" "90" "22" "43027437" "43027437" "subst" "4.02522E-5" "00006" "CYB5R3_000017" "g.43027437C>T" "" "{PMID:Shirabe 1992:01400360}" "" "G>A (Arg57Gln)" "" "Germline" "" "" "0" "" "" "g.42631431C>T" "" "pathogenic" "" "0000329073" "0" "50" "22" "43015787" "43015787" "subst" "0.00192114" "01804" "CYB5R3_000074" "g.43015787C>T" "" "" "" "CYB5R3(NM_000398.6):c.898G>A (p.(Val300Ile)), CYB5R3(NM_000398.7):c.898G>A (p.V300I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42619781C>T" "" "VUS" "" "0000329075" "0" "50" "22" "43024185" "43024185" "subst" "0.000146187" "01804" "CYB5R3_000075" "g.43024185T>C" "" "" "" "CYB5R3(NM_000398.6):c.436A>G (p.(Ser146Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42628179T>C" "" "VUS" "" "0000329077" "0" "50" "22" "43040474" "43040474" "subst" "0.00229528" "01804" "CYB5R3_000077" "g.43040474G>A" "" "" "" "CYB5R3(NM_000398.6):c.21+4827C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42644468G>A" "" "VUS" "" "0000329078" "0" "30" "22" "43045295" "43045295" "subst" "0.00155763" "01804" "CYB5R3_000078" "g.43045295G>A" "" "" "" "CYB5R3(NM_000398.6):c.21+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42649289G>A" "" "likely benign" "" "0000572241" "0" "30" "22" "43023385" "43023385" "subst" "0.000599476" "01943" "ATP5L2_000001" "g.43023385C>T" "" "" "" "CYB5R3(NM_000398.7):c.558G>A (p.P186=), CYB5R3(NM_001129819.2):c.489G>A (p.P163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42627379C>T" "" "likely benign" "" "0000572243" "0" "50" "22" "43032729" "43032729" "subst" "0.000620199" "01943" "ATP5L2_000003" "g.43032729C>G" "" "" "" "CYB5R3(NM_001129819.2):c.76G>C (p.D26H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42636723C>G" "" "VUS" "" "0000572244" "0" "30" "22" "43032737" "43032737" "subst" "2.87805E-5" "01943" "ATP5L2_000004" "g.43032737C>T" "" "" "" "CYB5R3(NM_001129819.2):c.68G>A (p.R23Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42636731C>T" "" "likely benign" "" "0000572245" "0" "10" "22" "43032829" "43032829" "subst" "0.000801961" "01943" "ATP5L2_000005" "g.43032829T>C" "" "" "" "CYB5R3(NM_001171660.1):c.144A>G (p.P48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42636823T>C" "" "benign" "" "0000618628" "0" "30" "22" "43015795" "43015795" "subst" "0.00211127" "01804" "ATP5L2_000007" "g.43015795C>T" "" "" "" "CYB5R3(NM_000398.6):c.890G>A (p.(Arg297His)), CYB5R3(NM_000398.7):c.890G>A (p.R297H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42619789C>T" "" "likely benign" "" "0000624320" "0" "50" "22" "43026976" "43026976" "subst" "7.73943E-5" "01943" "ATP5L2_000008" "g.43026976G>A" "" "" "" "CYB5R3(NM_001129819.2):c.176C>T (p.S59L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42630970G>A" "" "VUS" "" "0000630978" "3" "90" "22" "43024184" "43024184" "subst" "0" "00006" "CYB5R3_000079" "g.43024184C>G" "" "{PMID:Santos-Cortez 2018:30167849}" "" "NM_001171660.1:c.536G>C" "" "Germline" "" "" "0" "" "" "g.42628178C>G" "" "pathogenic (recessive)" "" "0000630979" "1" "90" "22" "43024184" "43024184" "subst" "0" "00006" "CYB5R3_000079" "g.43024184C>G" "" "{PMID:Santos-Cortez 2018:30167849}" "" "NM_001171660.1:c.536G>C" "" "Germline" "" "" "0" "" "" "g.42628178C>G" "" "pathogenic (recessive)" "" "0000630980" "1" "90" "22" "43024184" "43024184" "subst" "0" "00006" "CYB5R3_000079" "g.43024184C>G" "" "{PMID:Santos-Cortez 2018:30167849}" "" "NM_001171660.1:c.536G>C" "" "Germline" "" "" "0" "" "" "g.42628178C>G" "" "pathogenic (recessive)" "" "0000630981" "3" "90" "22" "43024184" "43024184" "subst" "0" "00006" "CYB5R3_000079" "g.43024184C>G" "" "{PMID:Santos-Cortez 2018:30167849}" "" "NM_001171660.1:c.536G>C" "" "Germline" "" "" "0" "" "" "g.42628178C>G" "" "pathogenic (recessive)" "" "0000658973" "0" "50" "22" "43019891" "43019891" "subst" "0.000252082" "01943" "CYB5R3_000044" "g.43019891C>T" "" "" "" "CYB5R3(NM_001129819.2):c.568G>A (p.E190K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42623885C>T" "" "VUS" "" "0000785944" "21" "99" "22" "43023680" "43023680" "subst" "0" "01864" "CYB5R3_000081" "g.43023680G>A" "" "" "" "" "" "Germline" "yes" "rs61732609" "0" "" "" "" "248" "likely pathogenic (recessive)" "ACMG" "0000785945" "11" "90" "22" "43032823" "43032823" "subst" "0" "01864" "CYB5R3_000080" "g.43032823C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000787087" "3" "70" "22" "43019795" "43024287" "del" "0" "00006" "CYB5R3_000082" "g.(?_43019795)_(43024287_?)del" "" "{PMID:Ganapathy 2019:31069529}" "" "chr22:43019795-?_43024287+?del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000856192" "0" "30" "22" "43027385" "43027385" "subst" "0" "01943" "ATP5L2_000010" "g.43027385G>A" "" "" "" "CYB5R3(NM_001129819.2):c.156C>T (p.V52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866881" "0" "30" "22" "43015959" "43015959" "subst" "0.000473268" "02326" "ATP5L2_000009" "g.43015959G>A" "" "" "" "CYB5R3(NM_000398.7):c.734-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895783" "0" "30" "22" "43015795" "43015795" "subst" "0.00211127" "02326" "ATP5L2_000007" "g.43015795C>T" "" "" "" "CYB5R3(NM_000398.6):c.890G>A (p.(Arg297His)), CYB5R3(NM_000398.7):c.890G>A (p.R297H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927191" "0" "30" "22" "43023385" "43023385" "subst" "0.000599476" "02326" "ATP5L2_000001" "g.43023385C>T" "" "" "" "CYB5R3(NM_000398.7):c.558G>A (p.P186=), CYB5R3(NM_001129819.2):c.489G>A (p.P163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970509" "0" "30" "22" "43015787" "43015787" "subst" "0.00192114" "02326" "CYB5R3_000074" "g.43015787C>T" "" "" "" "CYB5R3(NM_000398.6):c.898G>A (p.(Val300Ile)), CYB5R3(NM_000398.7):c.898G>A (p.V300I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984291" "0" "30" "22" "43027374" "43027374" "subst" "0" "01804" "ATP5L2_000011" "g.43027374C>T" "" "" "" "CYB5R3(NM_000398.7):c.226+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984292" "0" "50" "22" "43027396" "43027396" "subst" "0" "01804" "ATP5L2_000012" "g.43027396C>T" "" "" "" "CYB5R3(NM_000398.7):c.214G>A (p.(Gly72Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001012547" "0" "70" "22" "43023631" "43023631" "subst" "0" "03779" "CYB5R3_000083" "g.43023631C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs377689936" "0" "" "" "" "" "likely pathogenic" "" "0001027412" "0" "70" "22" "43015879" "43015879" "subst" "1.71484E-5" "02329" "CYB5R3_000035" "g.43015879G>A" "" "" "" "CYB5R3(NM_001129819.2):c.737C>T (p.P246L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043914" "0" "70" "22" "43023369" "43023369" "subst" "4.47821E-5" "01804" "ATP5L2_000013" "g.43023369G>A" "" "" "" "CYB5R3(NM_000398.7):c.574C>T (p.(Arg192Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043915" "0" "50" "22" "43024245" "43024245" "subst" "0" "01804" "ATP5L2_000014" "g.43024245T>C" "" "" "" "CYB5R3(NM_000398.7):c.376A>G (p.(Lys126Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes CYB5R3 ## Count = 129 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Haplotype}}" "0000146001" "00005968" "90" "383" "0" "383" "0" "c.383C>T" "r.(?)" "p.(Ser128Phe)" "5" "" "0000146004" "00005968" "99" "830" "0" "830" "0" "c.830dup" "r.(?)" "p.(Pro278Thrfs*91)" "9" "" "0000146007" "00005968" "90" "744" "0" "744" "0" "c.744C>G" "r.(?)" "p.(Tyr248*)" "9" "" "0000148437" "00005968" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Trp)" "2" "" "0000148438" "00005968" "99" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Arg59Cys)" "3" "" "0000148439" "00005968" "90" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59His)" "3" "" "0000148440" "00005968" "90" "182" "0" "182" "0" "c.182G>C" "r.(?)" "p.(Arg61Pro)" "3" "" "0000148441" "00005968" "90" "182" "0" "182" "0" "c.182G>C" "r.(?)" "p.(Arg61Pro)" "3" "" "0000148442" "00005968" "90" "223" "0" "223" "0" "c.223G>T" "r.(?)" "p.(Val75Phe)" "3" "" "0000148443" "00005968" "90" "383" "0" "383" "0" "c.383C>T" "r.(?)" "p.(Ser128Phe)" "5" "" "0000148444" "00005968" "99" "415" "0" "416" "0" "c.415_416del" "r.(?)" "p.(Thr139Hisfs*2)" "5" "" "0000148445" "00005968" "90" "428" "0" "428" "0" "c.428G>C" "r.(?)" "p.(Arg143Pro)" "5" "" "0000148446" "00005968" "90" "434" "0" "434" "0" "c.434C>T" "r.(?)" "p.(Pro145Leu)" "5" "" "0000148447" "00005968" "90" "713" "0" "713" "0" "c.713C>G" "r.(?)" "p.(Thr238Arg)" "8" "" "0000148448" "00005968" "90" "744" "0" "744" "0" "c.744C>G" "r.(?)" "p.(Tyr248*)" "9" "" "0000148449" "00005968" "90" "776" "0" "776" "0" "c.776G>C" "r.(?)" "p.(Arg259Pro)" "9" "" "0000148450" "00005968" "90" "830" "0" "830" "0" "c.830dup" "r.(?)" "p.(Pro278Thrfs*91)" "9" "" "0000148454" "00005968" "99" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28*)" "2" "" "0000148455" "00005968" "99" "129" "0" "129" "0" "c.129C>A" "r.(?)" "p.(Tyr43*)" "2" "" "0000148456" "00005968" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Trp)" "2" "" "0000148457" "00005968" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Trp)" "2" "" "0000148458" "00005968" "90" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Arg50Gln)" "2" "" "0000148459" "00005968" "99" "153" "1" "153" "1" "c.153+1G>A" "r.spl?" "p.?" "2i" "" "0000148460" "00005968" "99" "162" "0" "162" "0" "c.162C>G" "r.(?)" "p.(Ser54Arg)" "3" "" "0000148461" "00005968" "97" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "3" "" "0000148462" "00005968" "99" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "3" "" "0000148463" "00005968" "90" "173" "0" "173" "0" "c.173G>C" "r.(?)" "p.(Arg58Pro)" "3" "" "0000148464" "00005968" "90" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Pro65Leu)" "3" "" "0000148465" "00005968" "90" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Leu73Pro)" "3" "" "0000148466" "00005968" "90" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Gly76Ser)" "3" "" "0000148467" "00005968" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Gln77*)" "4" "" "0000148468" "00005968" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84*)" "4" "" "0000148469" "00005968" "90" "287" "0" "287" "0" "c.287C>A" "r.(?)" "p.(Pro96His)" "4" "" "0000148470" "00005968" "90" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Val106Met)" "4" "" "0000148471" "00005968" "90" "332" "0" "332" "0" "c.332A>T" "r.(?)" "p.(Lys111Met)" "4" "" "0000148472" "00005968" "90" "334" "-2" "334" "-2" "c.334-2A>G" "r.spl" "p.?" "4i" "" "0000148473" "00005968" "90" "334" "-1" "334" "-1" "c.334-1G>A" "r.spl" "p.?" "4i" "" "0000148474" "00005968" "90" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Met127Val)" "5" "" "0000148475" "00005968" "90" "382" "0" "382" "0" "c.382T>C" "r.(?)" "p.(Ser128Pro)" "5" "b5R Hiroshima" "0000148476" "00005968" "90" "392" "0" "392" "0" "c.392T>C" "r.(?)" "p.(Leu131Pro)" "5" "" "0000148477" "00005968" "90" "431" "0" "431" "0" "c.431G>A" "r.(?)" "p.(Gly144Asp)" "5" "" "0000148478" "00005968" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Pro145Ser)" "5" "" "0000148480" "00005968" "90" "446" "0" "446" "0" "c.446T>C" "r.(?)" "p.(Leu149Pro)" "5" "" "0000148481" "00005968" "90" "464" "0" "464" "0" "c.464G>A" "r.(spl?)" "p.(Gly155Glu)" "5" "" "0000148482" "00005968" "90" "462" "0" "462" "0" "c.462A>C" "r.(?)" "p.(Lys154Asn)" "5" "" "0000148483" "00005968" "90" "463" "2" "463" "2" "c.463+2T>C" "r.spl?" "p.?" "5i" "" "0000148484" "00005968" "90" "463" "8" "463" "8" "c.463+8G>C" "r.(?)" "p.(?)" "5i" "" "0000148485" "00005968" "90" "464" "-2" "464" "-2" "c.464-2A>C" "r.spl?" "p.?" "5i" "" "0000148486" "00005968" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "3" "" "0000148487" "00005968" "90" "470" "0" "470" "0" "c.470T>G" "r.(?)" "p.(Phe157Cys)" "6" "" "0000148488" "00005968" "90" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160*)" "6" "" "0000148489" "00005968" "90" "517" "0" "525" "0" "c.517_525del" "r.(?)" "p.(Lys173_Val175del)" "6" "" "0000148490" "00005968" "90" "514" "0" "514" "0" "c.514G>C" "r.(?)" "p.(Val172Leu)" "6" "" "0000148491" "00005968" "90" "531" "0" "531" "0" "c.531G>A" "r.(?)" "p.(Met177Ile)" "6" "" "0000148492" "00005968" "90" "533" "0" "533" "0" "c.533T>C" "r.(?)" "p.(Ile178Thr)" "6" "" "0000148493" "00005968" "90" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Ala179Thr)" "6" "" "0000148494" "00005968" "90" "547" "1" "547" "1" "c.547+1G>A" "r.spl" "p.?" "6i" "" "0000148495" "00005968" "90" "610" "0" "610" "0" "c.610T>C" "r.(?)" "p.(Cys204Arg)" "7" "" "0000148496" "00005968" "90" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Cys204Tyr)" "7" "" "0000148497" "00005968" "90" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Glu213Lys)" "8" "" "0000148498" "00005968" "90" "653" "0" "653" "0" "c.653T>C" "r.(?)" "p.(Leu218Pro)" "8" "" "0000148499" "00005968" "90" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219*)" "8" "" "0000148500" "00005968" "90" "708" "0" "708" "0" "c.708G>A" "r.(?)" "p.(Trp236*)" "8" "" "0000148501" "00005968" "90" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Thr238Met)" "8" "" "0000148502" "00005968" "90" "716" "0" "716" "0" "c.716T>G" "r.(?)" "p.(Leu239Arg)" "8" "" "0000148503" "00005968" "90" "719" "0" "719" "0" "c.719A>G" "r.(?)" "p.(Asp240Gly)" "8" "" "0000148504" "00005968" "90" "721" "0" "721" "0" "c.721A>G" "r.(?)" "p.(Arg241Gly)" "8" "" "0000148505" "00005968" "90" "734" "-1" "734" "-1" "c.734-1G>T" "r.spl" "p.?" "8i" "" "0000148506" "00005968" "90" "757" "0" "757" "0" "c.757G>A" "r.(?)" "p.(Val253Met)" "9" "" "0000148507" "00005968" "90" "766" "0" "768" "0" "c.766_768del" "r.(?)" "p.(Glu256del)" "9" "" "0000148508" "00005968" "90" "775" "0" "775" "0" "c.775C>T" "r.(?)" "p.(Arg259Trp)" "9" "" "0000148509" "00005968" "90" "802" "0" "804" "0" "c.802_804del" "r.(?)" "p.(Glu268del)" "9" "" "0000148510" "00005968" "90" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Pro269Leu)" "9" "" "0000148511" "00005968" "90" "817" "0" "819" "0" "c.817_819del" "r.(?)" "p.(Met273del)" "9" "" "0000148512" "00005968" "90" "875" "0" "875" "0" "c.875G>A" "r.(?)" "p.(Gly292Asp)" "9" "" "0000148513" "00005968" "90" "882" "0" "884" "0" "c.882_884delinsAA" "r.(?)" "p.(Thr295Argfs*54)" "9" "" "0000148514" "00005968" "90" "895" "0" "897" "0" "c.895_897del" "r.(?)" "p.(Phe299del)" "9" "" "0000148515" "00005968" "90" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Ala179Thr)" "6" "" "0000148516" "00005968" "90" "226" "0" "226" "0" "c.226G>A" "r.(spl?)" "p.(Gly76Ser)" "3" "" "0000148517" "00005968" "90" "533" "0" "533" "0" "c.533T>C" "r.(?)" "p.(Ile178Thr)" "6" "" "0000148518" "00005968" "90" "533" "0" "533" "0" "c.533T>C" "r.(?)" "p.(Ile178Thr)" "6" "" "0000148519" "00005968" "90" "757" "0" "757" "0" "c.757G>A" "r.(?)" "p.(Val253Met)" "9" "" "0000148520" "00005968" "90" "533" "0" "533" "0" "c.533T>C" "r.(?)" "p.(Ile178Thr)" "6" "" "0000148521" "00005968" "90" "529" "0" "529" "0" "c.529A>G" "r.(?)" "p.(Met177Val)" "6" "" "0000148522" "00005968" "90" "533" "0" "533" "0" "c.533T>C" "r.(?)" "p.(Ile178Thr)" "6" "" "0000148523" "00005968" "90" "529" "0" "529" "0" "c.529A>G" "r.(?)" "p.(Met177Val)" "6" "" "0000148524" "00005968" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Trp)" "2" "" "0000148525" "00005968" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Trp)" "2" "" "0000148526" "00005968" "90" "479" "0" "479" "0" "c.479C>G" "r.(?)" "p.(Arg160Pro)" "6" "" "0000148527" "00005968" "90" "533" "0" "533" "0" "c.533T>C" "r.(?)" "p.(Ile178Thr)" "6" "" "0000148528" "00005968" "90" "226" "0" "226" "0" "c.226G>A" "r.(spl?)" "p.(Gly76Ser)" "3" "" "0000148529" "00005968" "90" "226" "0" "226" "0" "c.226G>A" "r.(spl?)" "p.(Gly76Ser)" "3" "" "0000148530" "00005968" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Trp)" "2" "" "0000148531" "00005968" "90" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Pro65Leu)" "3" "" "0000148532" "00005968" "90" "716" "0" "716" "0" "c.716T>G" "r.(?)" "p.(Leu239Arg)" "8" "" "0000148533" "00005968" "90" "757" "0" "757" "0" "c.757G>A" "r.(?)" "p.(Val253Met)" "9" "" "0000148536" "00005968" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "3" "b5R Toyoake" "0000148537" "00005968" "90" "446" "0" "446" "0" "c.446T>C" "r.(?)" "p.(Leu149Pro)" "5" "b5R Kurobe" "0000148539" "00005968" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "3" "" "0000148540" "00005968" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "3" "" "0000329073" "00005968" "50" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Val300Ile)" "" "" "0000329075" "00005968" "50" "436" "0" "436" "0" "c.436A>G" "r.(?)" "p.(Ser146Gly)" "" "" "0000329077" "00005968" "50" "21" "4827" "21" "4827" "c.21+4827C>T" "r.(=)" "p.(=)" "" "" "0000329078" "00005968" "30" "21" "6" "21" "6" "c.21+6C>T" "r.(=)" "p.(=)" "" "" "0000572241" "00005968" "30" "558" "0" "558" "0" "c.558G>A" "r.(?)" "p.(Pro186=)" "" "" "0000572243" "00005968" "50" "145" "0" "145" "0" "c.145G>C" "r.(?)" "p.(Asp49His)" "" "" "0000572244" "00005968" "30" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "" "" "0000572245" "00005968" "10" "45" "0" "45" "0" "c.45A>G" "r.(?)" "p.(Pro15=)" "" "" "0000618628" "00005968" "30" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297His)" "" "" "0000624320" "00005968" "50" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Ser82Leu)" "" "" "0000630978" "00005968" "90" "437" "0" "437" "0" "c.437G>C" "r.[(536g>c),spl]" "p.[((Ser146Thr),?]" "" "" "0000630979" "00005968" "90" "437" "0" "437" "0" "c.437G>C" "r.[(536g>c),spl]" "p.[((Ser146Thr),?]" "" "" "0000630980" "00005968" "90" "437" "0" "437" "0" "c.437G>C" "r.[(536g>c),spl]" "p.[((Ser146Thr),?]" "" "" "0000630981" "00005968" "90" "437" "0" "437" "0" "c.437G>C" "r.[(536g>c),spl]" "p.[((Ser146Thr),?]" "" "" "0000658973" "00005968" "50" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Glu213Lys)" "" "" "0000785944" "00005968" "99" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160*)" "6" "" "0000785945" "00005968" "90" "51" "0" "51" "0" "c.51G>A" "r.(?)" "p.(Trp17*)" "2" "" "0000787087" "00005968" "70" "334" "-1" "733" "1" "c.(333+1_334-1)_(733+1_734-1)del" "r.?" "p.?" "4i_8i" "" "0000856192" "00005968" "30" "225" "0" "225" "0" "c.225C>T" "r.(?)" "p.(Val75=)" "" "" "0000866881" "00005968" "30" "734" "-8" "734" "-8" "c.734-8C>T" "r.(=)" "p.(=)" "" "" "0000895783" "00005968" "30" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297His)" "" "" "0000927191" "00005968" "30" "558" "0" "558" "0" "c.558G>A" "r.(?)" "p.(Pro186=)" "" "" "0000970509" "00005968" "30" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Val300Ile)" "" "" "0000984291" "00005968" "30" "226" "10" "226" "10" "c.226+10G>A" "r.(=)" "p.(=)" "" "" "0000984292" "00005968" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Ser)" "" "" "0001012547" "00005968" "70" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Gly176Val)" "" "" "0001027412" "00005968" "70" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Pro269Leu)" "" "" "0001043914" "00005968" "70" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Cys)" "" "" "0001043915" "00005968" "50" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Lys126Glu)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 107 "{{screeningid}}" "{{variantid}}" "0000088334" "0000146001" "0000088334" "0000146004" "0000088336" "0000146007" "0000090316" "0000148437" "0000090317" "0000148439" "0000090317" "0000148447" "0000090318" "0000148438" "0000090318" "0000148441" "0000090319" "0000148440" "0000090319" "0000148444" "0000090320" "0000148442" "0000090321" "0000148443" "0000090321" "0000148450" "0000090322" "0000148445" "0000090322" "0000148449" "0000090323" "0000148446" "0000090324" "0000148448" "0000090330" "0000148454" "0000090331" "0000148455" "0000090332" "0000148456" "0000090333" "0000148457" "0000090333" "0000148515" "0000090334" "0000148458" "0000090334" "0000148531" "0000090335" "0000148459" "0000090336" "0000148460" "0000090337" "0000148461" "0000090338" "0000148462" "0000090339" "0000148463" "0000090340" "0000148464" "0000090341" "0000148465" "0000090342" "0000148466" "0000090343" "0000148467" "0000090344" "0000148468" "0000090345" "0000148469" "0000090346" "0000148470" "0000090347" "0000148471" "0000090348" "0000148472" "0000090349" "0000148473" "0000090349" "0000148532" "0000090350" "0000148474" "0000090351" "0000148475" "0000090352" "0000148476" "0000090353" "0000148477" "0000090354" "0000148478" "0000090356" "0000148480" "0000090357" "0000148481" "0000090358" "0000148482" "0000090359" "0000148483" "0000090360" "0000148484" "0000090361" "0000148485" "0000090362" "0000148486" "0000090362" "0000148516" "0000090363" "0000148487" "0000090364" "0000148488" "0000090365" "0000148489" "0000090366" "0000148490" "0000090367" "0000148491" "0000090368" "0000148492" "0000090369" "0000148493" "0000090370" "0000148494" "0000090371" "0000148495" "0000090372" "0000148496" "0000090373" "0000148497" "0000090374" "0000148498" "0000090375" "0000148499" "0000090376" "0000148500" "0000090377" "0000148501" "0000090378" "0000148502" "0000090379" "0000148503" "0000090380" "0000148504" "0000090381" "0000148505" "0000090382" "0000148506" "0000090383" "0000148507" "0000090384" "0000148508" "0000090385" "0000148509" "0000090386" "0000148510" "0000090387" "0000148511" "0000090388" "0000148512" "0000090389" "0000148513" "0000090390" "0000148514" "0000090391" "0000148517" "0000090392" "0000148518" "0000090393" "0000148519" "0000090394" "0000148520" "0000090394" "0000148530" "0000090395" "0000148521" "0000090396" "0000148522" "0000090397" "0000148523" "0000090398" "0000148524" "0000090399" "0000148525" "0000090400" "0000148526" "0000090401" "0000148527" "0000090402" "0000148528" "0000090403" "0000148529" "0000090404" "0000148533" "0000090407" "0000148536" "0000090408" "0000148537" "0000090410" "0000148539" "0000090411" "0000148540" "0000276824" "0000630978" "0000276825" "0000630979" "0000276826" "0000630980" "0000276827" "0000630981" "0000374970" "0000785944" "0000374970" "0000785945" "0000375736" "0000787087"