GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DFNA5 V43Minsufficiently evaluated noneunknown

(1 web hit)

DFNA5 I47Tinsufficiently evaluated noneunknown
DFNA5 V109Linsufficiently evaluated noneunknown
DFNA5 P142Tinsufficiently evaluated none, f=0.166unknown

(9 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
DFNA5 Q145Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
DFNA5 V207Minsufficiently evaluated none, f=0.079unknown

(6 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
DFNA5 I211Tinsufficiently evaluated noneunknown
DFNA5 D312Ninsufficiently evaluated not reviewedunknown hu34D5B9 exome
DFNA5 A400Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_D05 from PGP sample 1205491
DFNA5 V466Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
Total results: 10

Gene search

"GENE" or "GENE A123C":

Log in