GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ANKH P5Linsufficiently evaluated pathogenicunknown

(65 web hits)

ANKH P5Tinsufficiently evaluated pathogenicunknown

(41 web hits)

ANKH M48Tinsufficiently evaluated pathogenicunknown

(46 web hits)

ANKH G94Einsufficiently evaluated noneunknown
ANKH R187Qinsufficiently evaluated not reviewed, f=0.006unknown var-GS20509-1100-36-ASM
ANKH L279Finsufficiently evaluated noneunknown

(1 web hit)

ANKH G389Rinsufficiently evaluated pathogenicdominant

(11 web hits)

ANKH A413Tinsufficiently evaluated not reviewed, f=0.002unknown
ANKHD1 E400Ginsufficiently evaluated not reviewedunknown
ANKHD1 E411Ginsufficiently evaluated not reviewedunknown
ANKHD1 E1024Ainsufficiently evaluated not reviewedunknown
ANKHD1 N1760Sinsufficiently evaluated noneunknown

(2 web hits)

ANKHD1 T2203Pinsufficiently evaluated not reviewedunknown
ANKHD1 N2453Sinsufficiently evaluated not reviewedunknown
ANKHD1-EIF4EBP3 Q143Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
ANKHD1-EIF4EBP3 Q255Einsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
ANKHD1-EIF4EBP3 E411Ginsufficiently evaluated not reviewedunknown
ANKHD1-EIF4EBP3 Q737Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
ANKHD1-EIF4EBP3 S918Linsufficiently evaluated not reviewed, f=0.000unknown var-GS18505-1100-36-ASM
ANKHD1-EIF4EBP3 E1024Ainsufficiently evaluated not reviewedunknown
ANKHD1-EIF4EBP3 G1586Sinsufficiently evaluated not reviewed, f=0.014unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_D01 from PGP sample 31286272
ANKHD1-EIF4EBP3 N1760Sinsufficiently evaluated none, f=0.000unknown var-GS18558-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18526-1100-36-ASM
ANKHD1-EIF4EBP3 M2018Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
ANKHD1-EIF4EBP3 P2169Sinsufficiently evaluated not reviewed, f=0.004unknown var-GS19026-1100-36-ASM
ANKHD1-EIF4EBP3 T2203Pinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_B01_200_37
ANKHD1-EIF4EBP3 N2453Sinsufficiently evaluated not reviewed, f=0.003unknown
Page: 1 2 3
Total results: 26

Gene search

"GENE" or "GENE A123C":

Log in