GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
KCNQ4 L274Hinsufficiently evaluated pathogenicunknown

(11 web hits)

KCNQ4 W276Sinsufficiently evaluated pathogenicunknown

(57 web hits)

KCNQ4 L281Sinsufficiently evaluated pathogenicunknown

(10 web hits)

KCNQ4 G285Cinsufficiently evaluated pathogenicunknown

(7 web hits)

KCNQ4 G285Sinsufficiently evaluated pathogenicunknown

(67 web hits)

KCNQ4 G296Sinsufficiently evaluated pathogenicunknown

(45 web hits)

KCNQ4 G321Sinsufficiently evaluated pathogenicunknown

(11 web hits)

KCNQ4 H401Qinsufficiently evaluated noneunknown
KCNQ4 H455Qinsufficiently evaluated none, f=0.174unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19701-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
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-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
KCNQ4 R500Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS10851-1100-36-ASM
Total results: 10

Gene search

"GENE" or "GENE A123C":

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