GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PLOD1 R2Ginsufficiently evaluated not reviewedunknown CGI sample GS000006909
PLOD1 K68Delinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
PLOD1 A84Pinsufficiently evaluated not reviewedunknown
PLOD1 A84Tinsufficiently evaluated not reviewed, f=0.029unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
PLOD1 A99Tinsufficiently evaluated not reviewed, f=0.282unknown

(4 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
var-GS18517-1100-36-ASM (hom)
PLOD1 A120Sinsufficiently evaluated none, f=0.151unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19129-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
PLOD1 T268Ainsufficiently evaluated none, f=0.005unknown var-GS18517-1100-36-ASM
PLOD1 I280Tinsufficiently evaluated not reviewed, f=0.000unknown var-GS18558-1100-36-ASM
PLOD1 R319Xinsufficiently evaluated pathogenicunknown

(11 web hits)

PLOD1 Y344Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
PLOD1 H473Qinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
PLOD1 Y511Xinsufficiently evaluated pathogenicunknown

(9 web hits)

PLOD1 E528Kinsufficiently evaluated not reviewed, f=0.001unknown var-GS19700-1100-36-ASM
PLOD1 W612Cinsufficiently evaluated pathogenicunknown

(29 web hits)

PLOD1 R670Xinsufficiently evaluated pathogenicunknown

(6 web hits)

PLOD1 G678Rinsufficiently evaluated pathogenicunknown
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Total results: 16

Gene search

"GENE" or "GENE A123C":

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