GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NDUFS1 C137Xinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
NDUFS1 D194Ninsufficiently evaluated noneunknown
NDUFS1 M204Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS19020-1100-36-ASM
NDUFS1 L231Vinsufficiently evaluated pathogenicunknown

(18 web hits)

NDUFS1 R241Winsufficiently evaluated pathogenicunknown

(22 web hits)

NDUFS1 D252Ginsufficiently evaluated pathogenicunknown

(23 web hits)

NDUFS1 R417Sinsufficiently evaluated not reviewedunknown
NDUFS1 L431Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
Total results: 8

Gene search

"GENE" or "GENE A123C":

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