GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TMPRSS3 V53Iinsufficiently evaluated pharmacogenetic, f=0.081unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
TMPRSS3 R80Hinsufficiently evaluated noneunknown

(1 web hit)

TMPRSS3 A90Tinsufficiently evaluated not reviewed, f=0.035unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
TMPRSS3 G111Sinsufficiently evaluated none, f=0.133unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18504-1100-36-ASM
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
TMPRSS3 R216Linsufficiently evaluated pathogenicunknown

(19 web hits)

TMPRSS3 W251Cinsufficiently evaluated pathogenicunknown

(33 web hits)

TMPRSS3 I253Vinsufficiently evaluated none, f=0.164unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS19701-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
TMPRSS3 P404Linsufficiently evaluated pathogenicunknown

(40 web hits)

TMPRSS3 V437Iinsufficiently evaluated not reviewed, f=0.004unknown var-GS19239-1100-36-ASM
TMPRSS3 X455Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS18502-1100-36-ASM
Total results: 10

Gene search

"GENE" or "GENE A123C":

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