GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COL1A2 H182Rinsufficiently evaluated not reviewedunknown

(1 web hit)

COL1A2 G259Cinsufficiently evaluated pathogenicunknown
COL1A2 G277Yinsufficiently evaluated pathogenicunknown
COL1A2 P350Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
COL1A2 G379Ainsufficiently evaluated pathogenicunknown
COL1A2 G472Cinsufficiently evaluated pathogenicunknown
COL1A2 G502Sinsufficiently evaluated pathogenicunknown
COL1A2 G547Dinsufficiently evaluated pathogenicunknown
COL1A2 P549Ainsufficiently evaluated not reviewed, f=0.798unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
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 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
COL1A2 G580Dinsufficiently evaluated pathogenicunknown
COL1A2 G586Vinsufficiently evaluated pathogenicunknown

(12 web hits)

COL1A2 R618Qinsufficiently evaluated pathogenicunknown

(8 web hits)

COL1A2 G646Cinsufficiently evaluated pathogenicunknown

(3 web hits)

COL1A2 G661Sinsufficiently evaluated pathogenicunknown

(5 web hits)

COL1A2 R693Qinsufficiently evaluated not reviewed, f=0.001unknown var-GS06994-1100-36-ASM
COL1A2 G694Rinsufficiently evaluated pathogenicunknown
COL1A2 A737Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
COL1A2 G751Sinsufficiently evaluated pathogenicunknown

(1 web hit)

COL1A2 G805Dinsufficiently evaluated pathogenicunknown
COL1A2 G841GGinsufficiently evaluated not reviewed, f=0.009unknown var-GS19239-1100-36-ASM
COL1A2 A843Tinsufficiently evaluated not reviewedunknown
COL1A2 P848Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
COL1A2 G859Sinsufficiently evaluated pathogenicunknown
COL1A2 G865Sinsufficiently evaluated pathogenicunknown
COL1A2 R906Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS20502-1100-36-ASM
COL1A2 G907Dinsufficiently evaluated pathogenicunknown

(1 web hit)

COL1A2 G976Dinsufficiently evaluated pathogenicunknown
COL1A2 G1006Ainsufficiently evaluated pathogenicunknown

(7 web hits)

COL1A2 G1012Rinsufficiently evaluated pathogenicunknown
COL1A2 E1201Xinsufficiently evaluated pathogenicunknown

(2 web hits)

COL1A2 R1205Qinsufficiently evaluated none, f=0.002unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
Page: 1 2 3 4
Total results: 31

Gene search

"GENE" or "GENE A123C":

Log in