GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC16A2 G25Rinsufficiently evaluated none, f=0.007unknown
SLC16A2 S107Pinsufficiently evaluated none, f=0.462unknown

(13 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18940-1100-36-ASM (hom)
SLC16A2 A224Vinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC16A2 L397Pinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC16A2 L434Winsufficiently evaluated pathogenicunknown

(5 web hits)

SLC16A2 S448Xinsufficiently evaluated pathogenicunknown

(4 web hits)

SLC16A2 L512Pinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC16A2 L568Pinsufficiently evaluated pathogenicunknown

(4 web hits)

Total results: 8

Gene search

"GENE" or "GENE A123C":

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