GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RB1 AAA16Delinsufficiently evaluated not reviewed, f=0.021unknown var-GS18505-1100-36-ASM
RB1 L158Finsufficiently evaluated noneunknown
RB1 R358Xinsufficiently evaluated pathogenicunknown

(22 web hits)

RB1 M387Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
RB1 R445Xinsufficiently evaluated pathogenicunknown

(35 web hits)

RB1 A525Ginsufficiently evaluated not reviewed, f=0.006unknown var-GS19834-1100-36-ASM
RB1 R556Xinsufficiently evaluated pathogenicunknown

(17 web hits)

RB1 S567Linsufficiently evaluated pathogenicunknown

(12 web hits)

RB1 Y606Xinsufficiently evaluated pathogenicunknown
RB1 R661Winsufficiently evaluated pathogenicunknown

(59 web hits)

RB1 Q675Xinsufficiently evaluated pathogenicunknown

(4 web hits)

RB1 C712Rinsufficiently evaluated pathogenicunknown

(13 web hits)

RB1 E748Xinsufficiently evaluated pathogenicunknown

(3 web hits)

RB1 R787Xinsufficiently evaluated pathogenicunknown

(23 web hits)

RB1 F897Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
RB1CC1 L45Qinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
RB1CC1 D221Ninsufficiently evaluated none, f=0.000unknown var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
RB1CC1 M234Tinsufficiently evaluated none, f=0.406unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
RB1CC1 N418Hinsufficiently evaluated not reviewedunknown
RB1CC1 A841Tinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
RB1CC1 I892Kinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_D01_200_37
RB1CC1 R1216Kinsufficiently evaluated not reviewedunknown
RB1CC1 M1451Vinsufficiently evaluated not reviewed, f=0.007unknown var-GS10851-1100-36-ASM
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Total results: 23

Gene search

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