GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LPIN1 F48Linsufficiently evaluated none, f=0.008unknown var-GS19129-1100-36-ASM
LPIN1 E215Xinsufficiently evaluated pathogenicunknown

(4 web hits)

LPIN1 S286Delinsufficiently evaluated not reviewed, f=0.016unknown var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
LPIN1 Q373Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
LPIN1 R388Xinsufficiently evaluated pathogenicunknown

(4 web hits)

LPIN1 V494Minsufficiently evaluated none, f=0.016unknown

(1 web hit)

var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
LPIN1 E571Dinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
LPIN1 G582Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS19735-1100-36-ASM
LPIN1 P610Sinsufficiently evaluated none, f=0.038unknown

(4 web hits)

CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
LPIN1 P617Sinsufficiently evaluated not reviewedunknown
LPIN1 R801Xinsufficiently evaluated pathogenicunknown

(1 web hit)

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Total results: 11

Gene search

"GENE" or "GENE A123C":

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