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VariantImpactInheritance patternSummaryGenomes
COL3A1 G16Sinsufficiently evaluated pathogenicunknown

(7 web hits)

COL3A1 A40Einsufficiently evaluated not reviewed, f=0.008unknown var-GS18517-1100-36-ASM
COL3A1 G82Dinsufficiently evaluated pathogenicunknown

(6 web hits)

COL3A1 G130Rinsufficiently evaluated pathogenicunknown

(2 web hits)

COL3A1 G136Rinsufficiently evaluated pathogenicunknown

(3 web hits)

COL3A1 K161Rinsufficiently evaluated not reviewedunknown
COL3A1 P206Rinsufficiently evaluated not reviewedunknown
COL3A1 E241Ginsufficiently evaluated not reviewedunknown
COL3A1 G373Rinsufficiently evaluated pathogenicunknown

(12 web hits)

COL3A1 G385Einsufficiently evaluated pathogenicunknown

(6 web hits)

COL3A1 G415Sinsufficiently evaluated pathogenicunknown

(8 web hits)

COL3A1 G499Dinsufficiently evaluated pathogenicunknown

(14 web hits)

COL3A1 A531Tinsufficiently evaluated pathogenicunknown
COL3A1 G571Sinsufficiently evaluated pathogenicunknown

(22 web hits)

COL3A1 P602Tinsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_A01_200_37
COL3A1 G619Rinsufficiently evaluated pathogenicunknown

(1 web hit)

COL3A1 G637Sinsufficiently evaluated pathogenicunknown

(6 web hits)

COL3A1 P668Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS19238-1100-36-ASM
COL3A1 A679Tinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
COL3A1 A698Tinsufficiently evaluated none, f=0.211unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_37
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
COL3A1 G790Sinsufficiently evaluated pathogenicunknown
COL3A1 G793Vinsufficiently evaluated pathogenicunknown
COL3A1 R800Ginsufficiently evaluated not reviewedunknown
COL3A1 G847Einsufficiently evaluated pathogenicunknown
COL3A1 G883Dinsufficiently evaluated pathogenicunknown
COL3A1 G883Vinsufficiently evaluated pathogenicunknown

(8 web hits)

COL3A1 G910Vinsufficiently evaluated pathogenicunknown
COL3A1 G934Einsufficiently evaluated pathogenicunknown
COL3A1 Q998Shiftinsufficiently evaluated not reviewedunknown CGI sample GS000006909
COL3A1 G1006Einsufficiently evaluated pathogenicunknown
COL3A1 G1018Dinsufficiently evaluated pathogenicunknown

(2 web hits)

COL3A1 G1021Einsufficiently evaluated pathogenicunknown

(13 web hits)

COL3A1 A1217Pinsufficiently evaluated not reviewedunknown
COL3A1 H1353Qinsufficiently evaluated not reviewed, f=0.994unknown

(7 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
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 (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
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 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
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 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-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 (hom)
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 (hom)
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 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
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 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
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-GS19669-1100-36-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 (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
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Total results: 34

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