GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CACNA1F P14Linsufficiently evaluated not reviewed, f=0.058unknown

(3 web hits)

var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
CACNA1F L364Pinsufficiently evaluated not reviewedunknown
CACNA1F G369Dinsufficiently evaluated pathogenicunknown

(65 web hits)

CACNA1F R519Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
CACNA1F R524Pinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CACNA1F I745Tinsufficiently evaluated pathogenicunknown

(29 web hits)

CACNA1F E825EEinsufficiently evaluated not reviewed, f=0.067unknown var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
CACNA1F R830Xinsufficiently evaluated pathogenicunknown

(1 web hit)

CACNA1F G933Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS19020-1100-36-ASM (hom)
CACNA1F R958Xinsufficiently evaluated pathogenicunknown

(6 web hits)

CACNA1F A1259Tinsufficiently evaluated not reviewed, f=0.007unknown var-GS19020-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
CACNA1F R1930Hinsufficiently evaluated not reviewed, f=0.060unknown

(4 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
Page: 1 2
Total results: 12

Gene search

"GENE" or "GENE A123C":

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