GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GP1BA R36Ginsufficiently evaluated not reviewed, f=0.005unknown
GP1BA L57Finsufficiently evaluated pathogenicunknown

(1 web hit)

GP1BA R72Hinsufficiently evaluated not reviewed, f=0.007unknown var-GS18504-1100-36-ASM
var-GS19834-1100-36-ASM
GP1BA L86Finsufficiently evaluated not reviewed, f=0.016unknown var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
GP1BA W126Xinsufficiently evaluated pathogenicunknown
GP1BA A156Vinsufficiently evaluated pathogenicunknown

(2 web hits)

GP1BA T161Minsufficiently evaluated not reviewed, f=0.122unknown var-GS19025-1100-36-ASM
hu34D5B9 exome
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000005532
var-GS21767-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19129-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
GP1BA G233Vinsufficiently evaluated pathogenicunknown

(4 web hits)

GP1BA M239Vinsufficiently evaluated pathogenicunknown

(5 web hits)

GP1BA W343Xinsufficiently evaluated pathogenicunknown

(1 web hit)

GP1BA P391Sinsufficiently evaluated not reviewed, f=0.006unknown var-GS19026-1100-36-ASM
GP1BA P411Linsufficiently evaluated not reviewed, f=0.000unknown
GP1BA W498Xinsufficiently evaluated pathogenicunknown
Page: 1 2
Total results: 13

Gene search

"GENE" or "GENE A123C":

Log in