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VariantImpactInheritance patternSummaryGenomes
COL1A1 G13Ainsufficiently evaluated pathogenicunknown

(30 web hits)

COL1A1 G13Dinsufficiently evaluated pathogenicunknown

(15 web hits)

COL1A1 G43Cinsufficiently evaluated pathogenicunknown

(2 web hits)

COL1A1 G76Einsufficiently evaluated pathogenicunknown

(10 web hits)

COL1A1 G85Rinsufficiently evaluated pathogenicunknown

(10 web hits)

COL1A1 G94Cinsufficiently evaluated pathogenicunknown

(2 web hits)

COL1A1 W94Cinsufficiently evaluated pathogenicunknown
COL1A1 G97Dinsufficiently evaluated pathogenicunknown

(3 web hits)

COL1A1 R134Cinsufficiently evaluated pathogenicunknown

(34 web hits)

COL1A1 G154Rinsufficiently evaluated pathogenicunknown

(5 web hits)

COL1A1 G175Cinsufficiently evaluated pathogenicunknown

(2 web hits)

COL1A1 G178Cinsufficiently evaluated pathogenicunknown

(3 web hits)

COL1A1 P205Ainsufficiently evaluated not reviewed, f=0.004unknown CGI sample GS00253-DNA_A02_200_37
COL1A1 G256Vinsufficiently evaluated pathogenicunknown

(3 web hits)

COL1A1 G352Sinsufficiently evaluated pathogenicunknown
COL1A1 G355Dinsufficiently evaluated pathogenicunknown
COL1A1 G391Rinsufficiently evaluated pathogenicunknown

(3 web hits)

COL1A1 G415Cinsufficiently evaluated pathogenicunknown

(3 web hits)

COL1A1 G415Sinsufficiently evaluated pathogenicunknown

(6 web hits)

COL1A1 G526Cinsufficiently evaluated pathogenicunknown

(2 web hits)

COL1A1 G541Dinsufficiently evaluated pathogenicunknown
COL1A1 G559Dinsufficiently evaluated pathogenicunknown
COL1A1 G565Vinsufficiently evaluated pathogenicunknown
COL1A1 G586Vinsufficiently evaluated pathogenicunknown

(14 web hits)

COL1A1 A625Tinsufficiently evaluated not reviewed, f=0.002unknown var-GS19834-1100-36-ASM
COL1A1 A628Tinsufficiently evaluated not reviewed, f=0.000unknown
COL1A1 G637Vinsufficiently evaluated pathogenicunknown

(2 web hits)

COL1A1 G661Sinsufficiently evaluated pathogenicunknown

(6 web hits)

COL1A1 G667Rinsufficiently evaluated pathogenicunknown

(3 web hits)

COL1A1 G673Dinsufficiently evaluated pathogenicunknown
COL1A1 G691Cinsufficiently evaluated pathogenicunknown

(2 web hits)

COL1A1 G718Cinsufficiently evaluated pathogenicunknown

(2 web hits)

COL1A1 G748Cinsufficiently evaluated pathogenicunknown

(4 web hits)

COL1A1 G802Vinsufficiently evaluated pathogenicunknown

(2 web hits)

COL1A1 G832Sinsufficiently evaluated pathogenicunknown

(10 web hits)

COL1A1 R836Cinsufficiently evaluated pathogenicunknown

(51 web hits)

COL1A1 G844Sinsufficiently evaluated pathogenicunknown

(3 web hits)

COL1A1 G847Rinsufficiently evaluated pathogenicunknown
COL1A1 G862Sinsufficiently evaluated pathogenicunknown

(3 web hits)

COL1A1 G883Dinsufficiently evaluated pathogenicunknown
COL1A1 G901Sinsufficiently evaluated pathogenicunknown

(4 web hits)

COL1A1 G904Cinsufficiently evaluated pathogenicunknown

(7 web hits)

COL1A1 G913Sinsufficiently evaluated pathogenicunknown

(4 web hits)

COL1A1 R963Xinsufficiently evaluated pathogenicunknown

(2 web hits)

COL1A1 G973Vinsufficiently evaluated pathogenicunknown

(2 web hits)

COL1A1 G988Cinsufficiently evaluated pathogenicunknown

(2 web hits)

COL1A1 G1003Sinsufficiently evaluated pathogenicunknown
COL1A1 G1006Vinsufficiently evaluated pathogenicunknown
COL1A1 G1009Sinsufficiently evaluated pathogenicunknown
COL1A1 G1017Cinsufficiently evaluated pathogenicunknown
COL1A1 T1075Ainsufficiently evaluated not reviewed, f=0.971unknown

(1 web hit)

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-GS18501-1100-36-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)
CGI sample GS000005532 (hom)
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 (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 GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
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
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (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
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: 51

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