GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COL11A2 R110Qinsufficiently evaluated not reviewed, f=0.001unknown var-GS19700-1100-36-ASM
COL11A2 R118Pinsufficiently evaluated not reviewed, f=0.001unknown hu232307 build 36 substitution variants
COL11A2 K148Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
COL11A2 S160Finsufficiently evaluated not reviewedunknown
COL11A2 G175Rinsufficiently evaluated pathogenicunknown

(3 web hits)

COL11A2 E276Kinsufficiently evaluated none, f=0.335unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
hu232307 build 36 substitution variants
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
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-GS18508-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL11A2 G297Sinsufficiently evaluated not reviewed, f=0.000unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
COL11A2 G323Einsufficiently evaluated pathogenicunknown

(3 web hits)

COL11A2 S345Xinsufficiently evaluated pathogenicunknown

(6 web hits)

COL11A2 G461Dinsufficiently evaluated not reviewed, f=0.001unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
COL11A2 R549Cinsufficiently evaluated pathogenicunknown

(3 web hits)

COL11A2 G572Einsufficiently evaluated not reviewedunknown
COL11A2 G593Einsufficiently evaluated not reviewedunknown
COL11A2 P610Sinsufficiently evaluated noneunknown
COL11A2 P621Tinsufficiently evaluated pathogenicunknown

(8 web hits)

COL11A2 P631Sinsufficiently evaluated noneunknown
COL11A2 G679Einsufficiently evaluated not reviewedunknown
COL11A2 P717Sinsufficiently evaluated noneunknown
COL11A2 P787Linsufficiently evaluated noneunknown

(4 web hits)

COL11A2 P808Linsufficiently evaluated noneunknown
COL11A2 R845Xinsufficiently evaluated pathogenicunknown

(7 web hits)

COL11A2 R893Xinsufficiently evaluated pathogenicunknown

(2 web hits)

COL11A2 P894Linsufficiently evaluated none, f=0.096unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL11A2 G955Einsufficiently evaluated pathogenicunknown

(12 web hits)

COL11A2 P1209Tinsufficiently evaluated noneunknown

(2 web hits)

COL11A2 P1230Tinsufficiently evaluated noneunknown
COL11A2 G1246Shiftinsufficiently evaluated not reviewedunknown hu34D5B9 exome
COL11A2 P1316Tinsufficiently evaluated none, f=0.046unknown

(2 web hits)

var-GS19025-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19670-1100-36-ASM
var-GS19669-1100-36-ASM
COL11A2 R1493Qinsufficiently evaluated noneunknown
COL11A2 R1514Qinsufficiently evaluated noneunknown
COL11A2 R1600Qinsufficiently evaluated none, f=0.000unknown

(3 web hits)

COL11A2 P1615Linsufficiently evaluated not reviewedunknown
COL11A2 V1619Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
COL11A2 P1636Linsufficiently evaluated not reviewedunknown
COL11A2 P1722Linsufficiently evaluated not reviewed, f=0.017unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome (hom)
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_H01_200_37
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Total results: 35

Gene search

"GENE" or "GENE A123C":

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