GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FRMD7 G24Rinsufficiently evaluated pathogenicunknown

(3 web hits)

FRMD7 M78Vinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_B02_200_37 (hom)
FRMD7 V84Vinsufficiently evaluated pathogenicunknown

(3 web hits)

FRMD7 L142Rinsufficiently evaluated pathogenicunknown

(10 web hits)

FRMD7 Q201Xinsufficiently evaluated pathogenicunknown
FRMD7 R229Ginsufficiently evaluated pathogenicunknown

(65 web hits)

FRMD7 S281Linsufficiently evaluated none, f=0.074unknown

(6 web hits)

hu3215A7 build 36 substitution variants (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS18502-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
var-GS18508-1100-36-ASM
FRMD7 R335Xinsufficiently evaluated pathogenicunknown

(3 web hits)

FRMD7 S438Shiftinsufficiently evaluated not reviewed, f=0.011unknown var-GS19669-1100-36-ASM
FRMD7 R468Hinsufficiently evaluated none, f=0.064unknown

(3 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS18942-1100-36-ASM
var-GS12004-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19238-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18517-1100-36-ASM
FRMD7 H520Dinsufficiently evaluated not reviewed, f=0.007unknown var-GS19704-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
FRMD7 G559Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19025-1100-36-ASM (hom)
FRMD7 I599Linsufficiently evaluated noneunknown
FRMD7 L713Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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