GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COCH P51Sinsufficiently evaluated pathogenicunknown

(208 web hits)

COCH V66Ginsufficiently evaluated pathogenicunknown

(19 web hits)

COCH G88Einsufficiently evaluated pathogenicunknown

(69 web hits)

COCH I109Ninsufficiently evaluated pathogenicunknown

(43 web hits)

COCH W117Rinsufficiently evaluated pathogenicunknown

(22 web hits)

COCH A119Tinsufficiently evaluated pathogenicunknown

(9 web hits)

COCH D281Ninsufficiently evaluated not reviewed, f=0.002unknown var-GS18504-1100-36-ASM
COCH T352Sinsufficiently evaluated none, f=0.509unknown

(1 web hit)

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 GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19735-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
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_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37 (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
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_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
COCH I450Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
COCH M512Tinsufficiently evaluated pathogenicunknown

(6 web hits)

COCH E518Ginsufficiently evaluated none, f=0.007unknown var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19129-1100-36-ASM
COCH C542Finsufficiently evaluated pathogenicunknown

(12 web hits)

COCH C542Yinsufficiently evaluated pathogenicunknown

(9 web hits)

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Total results: 13

Gene search

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