GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PRPS1 E43Dinsufficiently evaluated pathogenicunknown

(22 web hits)

PRPS1 D51Hinsufficiently evaluated pathogenicunknown

(1 web hit)

PRPS1 N113Sinsufficiently evaluated pathogenicunknown

(1 web hit)

PRPS1 M115Tinsufficiently evaluated pathogenicunknown

(22 web hits)

PRPS1 L128Iinsufficiently evaluated pathogenicunknown

(1 web hit)

PRPS1 Q133Pinsufficiently evaluated pathogenicunknown

(30 web hits)

PRPS1 L152Pinsufficiently evaluated pathogenicunknown

(31 web hits)

PRPS1 D182Hinsufficiently evaluated pathogenicunknown

(1 web hit)

PRPS1 A189Vinsufficiently evaluated pathogenicunknown

(1 web hit)

PRPS1 H192Qinsufficiently evaluated pathogenicunknown

(1 web hit)

PRPS1L1 T1Minsufficiently evaluated not reviewed, f=0.016unknown var-GS19025-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
PRPS1L1 E26Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
PRPS1L1 S36Ninsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
PRPS1L1 R49Ginsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
PRPS1L1 K78Qinsufficiently evaluated not reviewed, f=0.003unknown var-GS19026-1100-36-ASM
PRPS1L1 L145Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
PRPS1L1 R196Qinsufficiently evaluated none, f=0.001unknown
PRPS1L1 R243Ginsufficiently evaluated not reviewed, f=0.001unknown var-GS19703-1100-36-ASM
PRPS1L1 E279Dinsufficiently evaluated none, f=0.356unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
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
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
Page: 1 2
Total results: 19

Gene search

"GENE" or "GENE A123C":

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