GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MCEE R47Xinsufficiently evaluated pathogenic, f=0.000unknown

(23 web hits)

MCEE A76Vinsufficiently evaluated none, f=0.268unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
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)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS19670-1100-36-ASM
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
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
MCEE R104Linsufficiently evaluated not reviewed, f=0.189unknown

(11 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS19129-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
MCEE R143Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
MCEE R143Hinsufficiently evaluated not reviewed, f=0.024unknown var-GS19703-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
MCEE E147Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
Total results: 6

Gene search

"GENE" or "GENE A123C":

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