GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TMC1 R34Xinsufficiently evaluated pathogenicunknown

(27 web hits)

TMC1 E81Kinsufficiently evaluated none, f=0.202unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18501-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
var-GS18956-1100-36-ASM
TMC1 E83Delinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
TMC1 R141Winsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
TMC1 R272Ginsufficiently evaluated not reviewedunknown
TMC1 D308Ainsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_H01_200_37
TMC1 D308Einsufficiently evaluated not reviewed, f=0.001unknown
TMC1 M486Tinsufficiently evaluated none, f=0.021unknown CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
TMC1 C515Rinsufficiently evaluated pathogenicunknown

(1 web hit)

TMC1 D572Hinsufficiently evaluated pathogenicunknown

(10 web hits)

TMC1 D572Ninsufficiently evaluated pathogenicunknown

(18 web hits)

TMC1 M654Vinsufficiently evaluated pathogenicunknown

(6 web hits)

TMC1 L707Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
Page: 1 2
Total results: 13

Gene search

"GENE" or "GENE A123C":

Log in