GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
AHI1 T60Ainsufficiently evaluated not reviewed, f=0.004unknown var-GS18505-1100-36-ASM
AHI1 A173Tinsufficiently evaluated not reviewedunknown hu34D5B9 exome
AHI1 P242Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
AHI1 T304Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
AHI1 R329Linsufficiently evaluated not reviewed, f=0.001unknown var-GS19025-1100-36-ASM
AHI1 R351Xinsufficiently evaluated pathogenicunknown

(4 web hits)

AHI1 R435Xinsufficiently evaluated pathogenicunknown

(4 web hits)

AHI1 V443Dinsufficiently evaluated pathogenicunknown

(9 web hits)

AHI1 R548Hinsufficiently evaluated not reviewed, f=0.012unknown hu232307 build 36 substitution variants
CGI sample GS00253-DNA_C01_200_37
AHI1 R723Qinsufficiently evaluated pathogenicunknown

(2 web hits)

AHI1 R830Winsufficiently evaluated not reviewed, f=0.021unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19026-1100-36-ASM
AHI1 Q944Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS19703-1100-36-ASM
AHI1 R991Hinsufficiently evaluated not reviewed, f=0.004unknown var-GS21767-1100-36-ASM
AHI1 Q1018Pinsufficiently evaluated not reviewed, f=0.020unknown var-GS18504-1100-36-ASM (hom)
AHI1 T1055Minsufficiently evaluated not reviewed, f=0.001unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
AHI1 E1086Ginsufficiently evaluated not reviewed, f=0.000unknown var-GS18526-1100-36-ASM
Page: 1 2
Total results: 16

Gene search

"GENE" or "GENE A123C":

Log in