GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC5A1 V17Ainsufficiently evaluated not reviewed, f=0.009unknown var-GS21767-1100-36-ASM
var-GS19026-1100-36-ASM
SLC5A1 D28Ginsufficiently evaluated pathogenicunknown
SLC5A1 D28Ninsufficiently evaluated pathogenicunknown
SLC5A1 N51Sinsufficiently evaluated not reviewed, f=0.051unknown hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_G02 from PGP sample 67180598
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
SLC5A1 A411Tinsufficiently evaluated not reviewed, f=0.052unknown

(7 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 67180598
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
SLC5A1 H615Qinsufficiently evaluated not reviewed, f=0.051unknown

(4 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 67180598
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
SLC5A10 A91Vinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_B02_200_37
SLC5A10 Q217Xinsufficiently evaluated not reviewed, f=0.000unknown var-GS10851-1100-36-ASM
SLC5A10 F268Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
SLC5A10 R414RYGGGGRinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01173-DNA_B02 from PGP sample 94378523
SLC5A10 P469Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19238-1100-36-ASM
SLC5A10 G471Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
SLC5A10 A522Vinsufficiently evaluated none, f=0.100unknown CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
SLC5A10 A538Vinsufficiently evaluated none, f=0.183unknown var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
SLC5A10 A587Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
SLC5A11 F36Linsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_C01_200_37
SLC5A11 V182Ainsufficiently evaluated none, f=0.296unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18526-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
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
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SLC5A11 F258Linsufficiently evaluated not reviewed, f=0.038unknown var-GS19025-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM
SLC5A11 P513Linsufficiently evaluated not reviewed, f=0.000unknown
SLC5A11 T530Minsufficiently evaluated not reviewed, f=0.001unknown
SLC5A11 V539Minsufficiently evaluated none, f=0.002unknown

(1 web hit)

var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
SLC5A12 V8Iinsufficiently evaluated not reviewed, f=0.003unknown var-GS18526-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
SLC5A12 V143Linsufficiently evaluated not reviewed, f=0.014unknown var-GS19701-1100-36-ASM
var-GS19238-1100-36-ASM
SLC5A12 C340Finsufficiently evaluated not reviewed, f=0.052unknown hu34D5B9 exome
SLC5A12 V397Ginsufficiently evaluated not reviewedunknown
SLC5A12 V510Linsufficiently evaluated none, f=0.093unknown

(1 web hit)

CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
SLC5A12 R528Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
SLC5A12 A577Tinsufficiently evaluated none, f=0.001unknown
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Total results: 28

Gene search

"GENE" or "GENE A123C":

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