GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TAT P15Sinsufficiently evaluated none, f=0.175unknown

(66 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19834-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
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 (hom)
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
TAT R57Xinsufficiently evaluated pathogenicunknown

(25 web hits)

TAT S223Xinsufficiently evaluated pathogenicunknown

(1 web hit)

TAT V310Ainsufficiently evaluated not reviewed, f=0.001unknown var-GS21767-1100-36-ASM
TAT R367Cinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
TAT R417Xinsufficiently evaluated pathogenicunknown

(10 web hits)

TATDN1 K5Rinsufficiently evaluated not reviewed, f=0.006unknown var-GS19700-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
TATDN2 R23Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS18537-1100-36-ASM
TATDN2 S66Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
TATDN2 P86Sinsufficiently evaluated not reviewed, f=0.005unknown var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
TATDN2 H217Rinsufficiently evaluated none, f=0.155unknown var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
TATDN2 V256Iinsufficiently evaluated none, f=0.394unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
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
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
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM (hom)
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
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM (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
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
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 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
TATDN2 S308Cinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
TATDN2 S351Finsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
TATDN2 P358Linsufficiently evaluated none, f=0.150unknown CGI sample GS00253-DNA_E01_200_37
hu34D5B9 exome
var-GS18942-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
TATDN2 M416Tinsufficiently evaluated none, f=0.036unknown var-GS19020-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18517-1100-36-ASM
TATDN2 W441Xinsufficiently evaluated not reviewedunknown
TATDN2 G494Cinsufficiently evaluated not reviewed, f=0.001unknown var-GS19704-1100-36-ASM
TATDN2 M674Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
TATDN2 R714Cinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
TATDN3 E44Kinsufficiently evaluated none, f=0.004unknown var-GS19017-1100-36-ASM
TATDN3 R101Winsufficiently evaluated not reviewed, f=0.005unknown var-GS19704-1100-36-ASM
TATDN3 N157Sinsufficiently evaluated not reviewed, f=0.006unknown var-GS19704-1100-36-ASM
TATDN3 I237Sinsufficiently evaluated not reviewed, f=0.003unknown var-GS19025-1100-36-ASM
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Total results: 24

Gene search

"GENE" or "GENE A123C":

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