GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
APTX H27Rinsufficiently evaluated pathogenicunknown

(1 web hit)

APTX P32Linsufficiently evaluated pathogenicunknown

(3 web hits)

APTX K65Einsufficiently evaluated noneunknown
APTX P65Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
APTX V89Ginsufficiently evaluated pathogenicunknown

(3 web hits)

APTX S144Yinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
APTX K153Einsufficiently evaluated none, f=0.003unknown var-GS19129-1100-36-ASM
APTX K167Einsufficiently evaluated noneunknown
APTX L223Pinsufficiently evaluated pathogenicunknown

(2 web hits)

APTX W279Xinsufficiently evaluated pathogenic, f=0.000unknown

(64 web hits)

APTX Q324Linsufficiently evaluated not reviewed, f=0.002unknown var-GS12004-1100-36-ASM
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Total results: 11

Gene search

"GENE" or "GENE A123C":

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