GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PKLR G37Qinsufficiently evaluated pathogenicunknown
PKLR S130Yinsufficiently evaluated pathogenicunknown

(5 web hits)

PKLR R132Cinsufficiently evaluated pathogenicunknown

(1 web hit)

PKLR L230Finsufficiently evaluated noneunknown
PKLR V245Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS07357-1100-36-ASM
PKLR L261Finsufficiently evaluated noneunknown
PKLR E277Kinsufficiently evaluated not reviewed, f=0.003unknown var-GS19026-1100-36-ASM
PKLR T353Minsufficiently evaluated pathogenicunknown

(1 web hit)

PKLR T384Minsufficiently evaluated pathogenicunknown

(2 web hits)

PKLR Q421Kinsufficiently evaluated pathogenicunknown

(2 web hits)

PKLR R479Hinsufficiently evaluated pathogenicunknown

(12 web hits)

PKLR R486Winsufficiently evaluated pathogenic, f=0.002unknown

(10 web hits)

PKLR R510Qinsufficiently evaluated pathogenic, f=0.001unknown

(33 web hits)

PKLR R569Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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