GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CHRNB1 L7Pinsufficiently evaluated not reviewedrecessive CGI sample GS01669-DNA_B05 from PGP sample 86486261
CHRNB1 E32Ginsufficiently evaluated not reviewed, f=0.250unknown

(2 web hits)

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
hu3215A7 build 36 substitution variants
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 (hom)
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
CHRNB1 H198Rinsufficiently evaluated none, f=0.000unknown var-GS19129-1100-36-ASM
CHRNB1 R242Hinsufficiently evaluated noneunknown
CHRNB1 L263Minsufficiently evaluated pathogenicunknown

(3 web hits)

CHRNB1 V266Minsufficiently evaluated pathogenicunknown

(4 web hits)

CHRNB1 I420Tinsufficiently evaluated none, f=0.012unknown var-GS19834-1100-36-ASM
var-GS18517-1100-36-ASM
Total results: 7

Gene search

"GENE" or "GENE A123C":

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