GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CYB5R3 D26Hinsufficiently evaluated not reviewedunknown
CYB5R3 D49Hinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_B01_200_37
CYB5R3 R57Qinsufficiently evaluated pathogenicunknown
CYB5R3 L72Pinsufficiently evaluated pathogenicunknown
CYB5R3 Q77Xinsufficiently evaluated pathogenicunknown
CYB5R3 D82Hinsufficiently evaluated not reviewedunknown
CYB5R3 T94Sinsufficiently evaluated noneunknown
CYB5R3 F105Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
CYB5R3 V105Minsufficiently evaluated pathogenicunknown
CYB5R3 T116Sinsufficiently evaluated pathogenicunknown
CYB5R3 T117Sinsufficiently evaluated none, f=0.093unknown hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
CYB5R3 S127Pinsufficiently evaluated pathogenicunknown
CYB5R3 L148Pinsufficiently evaluated pathogenicunknown
CYB5R3 T150Sinsufficiently evaluated not reviewedunknown
CYB5R3 A158Tinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
CYB5R3 R160Xinsufficiently evaluated pathogenic, f=0.000unknown
CYB5R3 C203Rinsufficiently evaluated pathogenicunknown
CYB5R3 C203Yinsufficiently evaluated pathogenicunknown
CYB5R3 R218Xinsufficiently evaluated pathogenicunknown
CYB5R3 D239Ginsufficiently evaluated pathogenicunknown
CYB5R3 G291Dinsufficiently evaluated pathogenicunknown
CYB5R3 V300Iinsufficiently evaluated not reviewed, f=0.009unknown var-GS19017-1100-36-ASM
var-GS19026-1100-36-ASM
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Total results: 22

Gene search

"GENE" or "GENE A123C":

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