GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NDUFA1 G8Rinsufficiently evaluated pathogenicunknown

(4 web hits)

NDUFA1 R37Sinsufficiently evaluated pathogenicunknown

(3 web hits)

NDUFA10 A2Ginsufficiently evaluated none, f=0.086unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046
NDUFA10 N65Sinsufficiently evaluated not reviewed, f=0.011unknown
NDUFA10 E226Ainsufficiently evaluated not reviewedunknown
NDUFA10 A232Pinsufficiently evaluated not reviewedunknown
NDUFA10 E238Kinsufficiently evaluated none, f=0.005unknown
NDUFA10 R261Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
NDUFA11 A186Vinsufficiently evaluated not reviewedunknown
NDUFA11 T221Ainsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
NDUFA12L R45Xinsufficiently evaluated pathogenicunknown

(1 web hit)

NDUFA13 K88Ninsufficiently evaluated pathogenicunknown
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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