GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COL10A1 G18Rinsufficiently evaluated pathogenicunknown

(5 web hits)

COL10A1 G18Einsufficiently evaluated pathogenicunknown

(3 web hits)

COL10A1 M27Tinsufficiently evaluated none, f=0.500unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM (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
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
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
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL10A1 S50Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
COL10A1 G434Shiftinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B01_200_37
COL10A1 G545Rinsufficiently evaluated none, f=0.162unknown

(7 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
var-GS19025-1100-36-ASM
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18947-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL10A1 M549Iinsufficiently evaluated not reviewed, f=0.001unknown var-GS18501-1100-36-ASM
COL10A1 C591Rinsufficiently evaluated pathogenicunknown

(7 web hits)

COL10A1 G595Einsufficiently evaluated pathogenicunknown

(8 web hits)

COL10A1 Y597Cinsufficiently evaluated pathogenicunknown

(1 web hit)

COL10A1 Y598Dinsufficiently evaluated pathogenicunknown

(11 web hits)

COL10A1 S600Pinsufficiently evaluated pathogenicunknown

(10 web hits)

COL10A1 W611Xinsufficiently evaluated pathogenicunknown

(9 web hits)

COL10A1 L614Pinsufficiently evaluated pathogenicunknown

(2 web hits)

COL10A1 Y628Xinsufficiently evaluated pathogenicunknown

(3 web hits)

COL10A1 Y632Xinsufficiently evaluated pathogenicunknown

(9 web hits)

COL10A1 W651Rinsufficiently evaluated pathogenicunknown

(4 web hits)

COL10A1 W651Xinsufficiently evaluated pathogenicunknown

(6 web hits)

COL10A1 S671Pinsufficiently evaluated pathogenicunknown

(24 web hits)

Page: 1 2
Total results: 19

Gene search

"GENE" or "GENE A123C":

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