GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ABCB4 T175Ainsufficiently evaluated not reviewed, f=0.008unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
ABCB4 T175Vinsufficiently evaluated pathogenicunknown

(3 web hits)

ABCB4 S320Finsufficiently evaluated pathogenic, f=0.000unknown

(23 web hits)

ABCB4 Y403Hinsufficiently evaluated pathogenicunknown

(2 web hits)

ABCB4 C433Winsufficiently evaluated not reviewed, f=0.046unknown
ABCB4 E528Dinsufficiently evaluated unknown, f=0.011unknown

(10 web hits)

var-GS19704-1100-36-ASM
hu728FFF build 36 substitution variants
ABCB4 A546Dinsufficiently evaluated pathogenicunknown

(84 web hits)

ABCB4 R590Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCB4 T651Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
ABCB4 T651Sinsufficiently evaluated not reviewedunknown
ABCB4 R652Ginsufficiently evaluated not reviewed, f=0.166unknown

(37 web hits)

CGI sample GS00253-DNA_E01_200_37
hu34D5B9 exome
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19670-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
ABCB4 S674Linsufficiently evaluated noneunknown
ABCB4 R788Qinsufficiently evaluated unknown, f=0.026unknown

(2 web hits)

var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
ABCB4 R788Pinsufficiently evaluated not reviewedunknown
ABCB4 L861Vinsufficiently evaluated not reviewedunknown
ABCB4 R957Xinsufficiently evaluated pathogenicunknown

(1 web hit)

ABCB4 L1042Finsufficiently evaluated noneunknown
ABCB4 L1089Finsufficiently evaluated noneunknown
ABCB4 P1161Sinsufficiently evaluated pathogenicunknown

(1 web hit)

Page: 1 2
Total results: 19

Gene search

"GENE" or "GENE A123C":

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