GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
EHMT1 A12Ginsufficiently evaluated not reviewed, f=0.023unknown var-GS18501-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
EHMT1 A19Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
EHMT1 A43Ginsufficiently evaluated none, f=0.022unknown
EHMT1 I60Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
EHMT1 Q75Einsufficiently evaluated not reviewed, f=0.016unknown var-GS19025-1100-36-ASM
var-GS19238-1100-36-ASM
EHMT1 P145Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19129-1100-36-ASM
EHMT1 P176Sinsufficiently evaluated none, f=0.010unknown
EHMT1 R387Cinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
EHMT1 A388Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
EHMT1 A468Tinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_A07 from PGP sample 96240009
EHMT1 L471Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
EHMT1 L663Pinsufficiently evaluated not reviewedunknown
EHMT1 Q752Rinsufficiently evaluated not reviewedunknown
EHMT1 R1137Xinsufficiently evaluated pathogenicunknown

(5 web hits)

EHMT1 S1236Rinsufficiently evaluated not reviewed, f=0.011unknown var-GS18555-1100-36-ASM
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Total results: 15

Gene search

"GENE" or "GENE A123C":

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