GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PRPF3 G225Dinsufficiently evaluated not reviewedunknown
PRPF3 I338Tinsufficiently evaluated not reviewedunknown
PRPF3 A489Dinsufficiently evaluated pathogenicunknown
PRPF3 P493Sinsufficiently evaluated pathogenicunknown

(6 web hits)

PRPF3 T494Minsufficiently evaluated pathogenicunknown

(28 web hits)

PRPF31 A194Einsufficiently evaluated pathogenicunknown

(30 web hits)

PRPF31 A216Pinsufficiently evaluated pathogenicunknown

(50 web hits)

PRPF31 A291Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
PRPF31 K470Einsufficiently evaluated not reviewedunknown
PRPF38A L54Sinsufficiently evaluated not reviewedunknown
PRPF38A K139Einsufficiently evaluated not reviewed, f=0.379unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
PRPF38A E298Ainsufficiently evaluated not reviewedunknown
PRPF38B Q13Hinsufficiently evaluated not reviewed, f=0.009unknown var-GS19834-1100-36-ASM
PRPF38B R352Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
PRPF38B K464Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01175-DNA_F02 from PGP sample 95788191
PRPF39 Q43Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
PRPF39 R154Qinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_A02_200_37
PRPF39 N217Dinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_A02_200_37
PRPF39 F409Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
PRPF39 Y591Cinsufficiently evaluated not reviewedunknown
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Total results: 20

Gene search

"GENE" or "GENE A123C":

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