GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NOTCH1 L8Pinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
NOTCH1 T349Pinsufficiently evaluated not reviewedunknown hu34D5B9 exome
NOTCH1 R504Hinsufficiently evaluated not reviewed, f=0.001unknown var-GS18508-1100-36-ASM
NOTCH1 I567Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
NOTCH1 N755Delinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
NOTCH1 E848Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_B04 from PGP sample 88590671
NOTCH1 R1108Xinsufficiently evaluated pathogenicunknown

(6 web hits)

NOTCH1 L1164Ginsufficiently evaluated not reviewedunknown
NOTCH1 V1222Minsufficiently evaluated not reviewedunknown
NOTCH1 P1256Linsufficiently evaluated none, f=0.006unknown var-GS18504-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
NOTCH1 R1279Hinsufficiently evaluated not reviewed, f=0.016unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS18947-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_D03 from PGP sample 27486199
NOTCH1 P1377Sinsufficiently evaluated not reviewed, f=0.016unknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
NOTCH1 N1421Sinsufficiently evaluated none, f=0.000unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
NOTCH1 R1608Hinsufficiently evaluated not reviewed, f=0.001unknown var-GS07357-1100-36-ASM
var-GS19670-1100-36-ASM
NOTCH1 A1640Pinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
NOTCH1 V1671Iinsufficiently evaluated not reviewed, f=0.006unknown var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
NOTCH1 A2037Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
NOTCH1 P2133Sinsufficiently evaluated none, f=0.005unknown
NOTCH1 V2285Iinsufficiently evaluated not reviewed, f=0.012unknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19669-1100-36-ASM
NOTCH1 R2327Qinsufficiently evaluated not reviewed, f=0.000unknown var-GS21767-1100-36-ASM
NOTCH1 A2331Tinsufficiently evaluated not reviewed, f=0.006unknown

(2 web hits)

NOTCH1 A2339Dinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
NOTCH1 V2536Iinsufficiently evaluated not reviewed, f=0.001unknown

(1 web hit)

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Total results: 23

Gene search

"GENE" or "GENE A123C":

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