GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PCSK1 R80Qinsufficiently evaluated noneunknown

(3 web hits)

CGI sample GS01175-DNA_B01 from PGP sample 86206034
PCSK1 N174Dinsufficiently evaluated not reviewedunknown
PCSK1 N221Dinsufficiently evaluated pharmacogenetic, f=0.036unknown

(63 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
PCSK1 E250Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PCSK1 S307Linsufficiently evaluated pathogenicunknown

(2 web hits)

PCSK1 Q355Einsufficiently evaluated not reviewedunknown
PCSK1 S380Tinsufficiently evaluated not reviewedunknown
PCSK1 G483Rinsufficiently evaluated pathogenicunknown

(3 web hits)

PCSK1 Q618Einsufficiently evaluated not reviewedunknown
PCSK1 S643Tinsufficiently evaluated not reviewedunknown
PCSK1 Q665Einsufficiently evaluated pharmacogenetic, f=0.247unknown

(48 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM
PCSK1 S690Tinsufficiently evaluated pharmacogenetic, f=0.235unknown

(62 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM
PCSK1 Y724Hinsufficiently evaluated not reviewedunknown
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Total results: 13

Gene search

"GENE" or "GENE A123C":

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