GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
F7 E25Kinsufficiently evaluated pathogenicunknown

(71 web hits)

F7 N57Dinsufficiently evaluated pathogenicunknown

(45 web hits)

F7 C61Xinsufficiently evaluated pathogenicunknown

(42 web hits)

F7 R139Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS19834-1100-36-ASM
F7 C178Yinsufficiently evaluated pathogenicunknown
F7 Q211Xinsufficiently evaluated pathogenicunknown

(2 web hits)

F7 A244Vinsufficiently evaluated pathogenicunknown

(26 web hits)

F7 R247Hinsufficiently evaluated pathogenicunknown

(7 web hits)

F7 R284Qinsufficiently evaluated not reviewed, f=0.016unknown var-GS18508-1100-36-ASM (hom)
F7 A294Vinsufficiently evaluated pathogenicunknown

(43 web hits)

F7 R304Qinsufficiently evaluated pathogenic, f=0.000unknown

(11 web hits)

F7 C310Finsufficiently evaluated pathogenicunknown

(9 web hits)

F7 F328Sinsufficiently evaluated pathogenicunknown

(2 web hits)

F7 C329Ginsufficiently evaluated pathogenicunknown

(2 web hits)

F7 A332Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
F7 H348Qinsufficiently evaluated pathogenicunknown

(4 web hits)

F7 R353Qinsufficiently evaluated pathogenicunknown

(172 web hits)

F7 G354Cinsufficiently evaluated pathogenicunknown

(2 web hits)

F7 T359Minsufficiently evaluated pathogenicunknown

(4 web hits)

F7 R364Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
F7 R391Qinsufficiently evaluated none, f=0.109unknown

(3 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01175-DNA_D03 from PGP sample 27486199
F7 R413Qinsufficiently evaluated none, f=0.081unknown

(11 web hits)

var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
F7 E423Kinsufficiently evaluated not reviewed, f=0.001unknown

(3 web hits)

F7 E445Kinsufficiently evaluated not reviewedunknown

(1 web hit)

Page: 1 2 3
Total results: 24

Gene search

"GENE" or "GENE A123C":

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