GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BCKDHA G29Einsufficiently evaluated not reviewedunknown
BCKDHA P39Hinsufficiently evaluated not reviewed, f=0.097unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CGI sample GS01175-DNA_D03 from PGP sample 27486199
BCKDHA Q42Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS19017-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
BCKDHA T151Minsufficiently evaluated not reviewed, f=0.007unknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01669-DNA_B05 from PGP sample 86486261
BCKDHA G204Sinsufficiently evaluated pathogenicunknown

(3 web hits)

BCKDHA C219Winsufficiently evaluated pathogenicunknown

(2 web hits)

BCKDHA R220Winsufficiently evaluated pathogenicunknown

(4 web hits)

BCKDHA G245Rinsufficiently evaluated pathogenicunknown

(71 web hits)

BCKDHA T265Rinsufficiently evaluated pathogenicunknown

(3 web hits)

BCKDHA F364Cinsufficiently evaluated pathogenicunknown

(71 web hits)

BCKDHA Y393Ninsufficiently evaluated pathogenicunknown

(79 web hits)

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Total results: 11

Gene search

"GENE" or "GENE A123C":

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