GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ATP6V0A2 R63Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ATP6V0A2 E257Kinsufficiently evaluated not reviewed, f=0.000unknown var-GS18508-1100-36-ASM
ATP6V0A2 R339Hinsufficiently evaluated none, f=0.023unknown var-GS18517-1100-36-ASM
ATP6V0A2 M357Linsufficiently evaluated not reviewed, f=0.001unknown var-GS18504-1100-36-ASM
ATP6V0A2 K374Rinsufficiently evaluated none, f=0.023unknown var-GS18517-1100-36-ASM
ATP6V0A2 V420Linsufficiently evaluated not reviewed, f=0.004unknown CGI sample GS00253-DNA_A02_200_37
ATP6V0A2 A496Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS20502-1100-36-ASM
ATP6V0A2 Q765Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ATP6V0A2 A813Vinsufficiently evaluated not reviewed, f=0.024unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
hu34D5B9 exome
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS06985-1100-36-ASM
ATP6V0A2 N850Sinsufficiently evaluated not reviewed, f=0.012unknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19669-1100-36-ASM
Total results: 10

Gene search

"GENE" or "GENE A123C":

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