Gene: COL1A1
mRNA Accession: Z74615
Mutation:COL1A1.txt
Chromosome: chr 17

Sequence Walker  


No Change of Information Content
Mutation SubmittedMutation InstructionGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
IVS22-1G>T
Sequence Walker  
c48613888a 48613892 -4 48613888 0.1 0.1 0.0 1.0 100 -1.9 -1.9 0.0
IVS22-1G>T
Sequence Walker  
c48613888a 48613851 37 48613888 1.5 1.5 0.0 1.0 100 -1.6 -1.6 0.0
IVS22-1G>T
Sequence Walker  
c48613888a 48613842 46 48613888 5.3 5.3 0.0 1.0 100 -0.8 -0.8 0.0
IVS22+3A>G
Sequence Walker  
t48614010c 48614033 -21 48614012 4.8 4.8 0.0 1.0 100 -0.9 -0.9 0.0
IVS22+3A>G
Sequence Walker  
t48614010c 48614013 -1 48614012 0.8 0.8 0.0 1.0 100 -1.8 -1.8 0.0
IVS26+1G>A
Sequence Walker  
c48612433t 48612398 35 48612433 3.2 3.2 0.0 1.0 100 -1.2 -1.2 0.0
IVS26+1G>A
Sequence Walker  
c48612433t 48612396 37 48612433 3.8 3.8 0.0 1.0 100 -1.1 -1.1 0.0
IVS26+1G>A
Sequence Walker  
c48612433t 48612393 40 48612433 4.3 4.3 0.0 1.0 100 -1.0 -1.0 0.0
IVS26+1G>A
Sequence Walker  
c48612433t 48612388 45 48612433 3.1 3.1 0.0 1.0 100 -1.3 -1.3 0.0
IVS26+1G>A
Sequence Walker  
c48612433t 48612387 46 48612433 1.0 1.0 0.0 1.0 100 -1.7 -1.7 0.0
IVS26+1G>A
Sequence Walker  
c48612433t 48612384 49 48612433 1.4 1.4 0.0 1.0 100 -1.6 -1.6 0.0
IVS26+1G>T
Sequence Walker  
c48612433a 48612398 35 48612433 3.2 3.2 0.0 1.0 100 -1.2 -1.2 0.0
IVS26+1G>T
Sequence Walker  
c48612433a 48612396 37 48612433 3.8 3.8 0.0 1.0 100 -1.1 -1.1 0.0
IVS26+1G>T
Sequence Walker  
c48612433a 48612393 40 48612433 4.3 4.3 0.0 1.0 100 -1.0 -1.0 0.0
IVS26+1G>T
Sequence Walker  
c48612433a 48612388 45 48612433 3.1 3.1 0.0 1.0 100 -1.3 -1.3 0.0
IVS26+1G>T
Sequence Walker  
c48612433a 48612387 46 48612433 1.0 1.0 0.0 1.0 100 -1.7 -1.7 0.0
IVS26+1G>T
Sequence Walker  
c48612433a 48612384 49 48612433 1.4 1.4 0.0 1.0 100 -1.6 -1.6 0.0
IVS27-1G>C
Sequence Walker  
c48612134g 48612159 -25 48612134 1.6 1.6 0.0 1.0 100 -1.6 -1.6 0.0
IVS27-1G>C
Sequence Walker  
c48612134g 48612150 -16 48612134 5.4 5.4 0.0 1.0 100 -0.8 -0.8 0.0
IVS41+4A>C
Sequence Walker  
t48608339g 48608307 35 48608342 4.2 4.2 0.0 1.0 100 -1.0 -1.0 0.0
IVS47+1G>A
Sequence Walker  
c48606454t 48606447 7 48606454 2.0 2.0 0.0 1.0 100 -1.5 -1.5 0.0
IVS47+1G>A
Sequence Walker  
c48606454t 48606426 28 48606454 0.9 0.9 0.0 1.0 100 -1.7 -1.7 0.0
IVS47+1G>A
Sequence Walker  
c48606454t 48606416 38 48606454 8.3 8.3 0.0 1.0 100 -0.1 -0.1 0.0
IVS47+1G>A
Sequence Walker  
c48606454t 48606407 47 48606454 2.2 2.2 0.0 1.0 100 -1.5 -1.5 0.0
IVS47-3C>G
Sequence Walker  
g48606365c 48606368 -5 48606363 4.6 4.6 0.0 1.0 100 -0.9 -0.9 0.0
IVS47-3C>G
Sequence Walker  
g48606365c 48606335 28 48606363 3.1 3.1 0.0 1.0 100 -1.3 -1.3 0.0
IVS47-3C>G
Sequence Walker  
g48606365c 48606326 37 48606363 3.4 3.4 0.0 1.0 100 -1.2 -1.2 0.0
IVS47-3C>G
Sequence Walker  
g48606365c 48606316 47 48606363 10.3 10.3 0.0 1.0 100 0.3 0.3 0.0
IVS48+1G>A
Sequence Walker  
c48606079t 48606105 -26 48606079 3.1 3.1 0.0 1.0 100 -1.3 -1.3 0.0
IVS48+1G>A
Sequence Walker  
c48606079t 48606045 34 48606079 3.1 3.1 0.0 1.0 100 -1.3 -1.3 0.0
IVS48+1G>A
Sequence Walker  
c48606079t 48606040 39 48606079 4.3 4.3 0.0 1.0 100 -1.0 -1.0 0.0
IVS48+1G>A
Sequence Walker  
c48606079t 48606036 43 48606079 3.0 3.0 0.0 1.0 100 -1.3 -1.3 0.0
IVS48+1G>A
Sequence Walker  
c48606079t 48606031 48 48606079 10.0 10.0 0.0 1.0 100 0.2 0.2 0.0
IVS11+3-+6delGAGT
Sequence Walker  
d48616444,48616447 48616416 33 48616449 0.7 0.7 0.0 1.0 100 -1.8 -1.8 0.0
IVS11+3-+6delGAGT
Sequence Walker  
d48616444,48616447 48616409 40 48616449 2.2 2.2 0.0 1.0 100 -1.5 -1.5 0.0
IVS12+1G>A
Sequence Walker  
c48616056t 48616016 40 48616056 6.9 6.9 0.0 1.0 100 -0.4 -0.4 0.0
IVS12+1G>A
Sequence Walker  
c48616056t 48616014 42 48616056 1.1 1.1 0.0 1.0 100 -1.7 -1.7 0.0
IVS13-10T>A
Sequence Walker  
a48615817t 48615821 -13 48615808 3.1 3.1 0.0 1.0 100 -1.3 -1.3 0.0
IVS14+5G>A
Sequence Walker  
c48615749t 48615700 53 48615753 0.7 0.7 0.0 1.0 100 -1.8 -1.8 0.0
IVS15-33--44delCTGCCATCTCTT
Sequence Walker  
d48615661,48615672 48615700 -60 48615640 0.7 0.7 0.0 1.0 100 -1.8 -1.8 0.0
IVS16-2A>G
Sequence Walker  
t48615107c 48615112 -6 48615106 2.4 2.4 0.0 1.0 100 -1.4 -1.4 0.0
IVS16-2A>G
Sequence Walker  
t48615107c 48615069 37 48615106 0.6 0.6 0.0 1.0 100 -1.8 -1.8 0.0
IVS16-2A>G
Sequence Walker  
t48615107c 48615061 45 48615106 0.8 0.8 0.0 1.0 100 -1.8 -1.8 0.0
IVS17+1G>C
Sequence Walker  
c48615006g 48615024 -18 48615006 2.2 2.2 0.0 1.0 100 -1.5 -1.5 0.0
IVS17+1G>C
Sequence Walker  
c48615006g 48615015 -9 48615006 0.6 0.6 0.0 1.0 100 -1.8 -1.8 0.0
IVS17+1G>C
Sequence Walker  
c48615006g 48614966 40 48615006 0.4 0.4 0.0 1.0 100 -1.9 -1.9 0.0
IVS17+1G>C
Sequence Walker  
c48615006g 48614960 46 48615006 9.9 9.9 0.0 1.0 100 0.2 0.2 0.0
IVS17+1G>C
Sequence Walker  
c48615006g 48614958 48 48615006 2.8 2.8 0.0 1.0 100 -1.3 -1.3 0.0
IVS18+1G>A
Sequence Walker  
c48614873t 48614830 43 48614873 8.1 8.1 0.0 1.0 100 -0.2 -0.2 0.0
IVS18-1G>A
Sequence Walker  
c48614771t 48614800 -29 48614771 0.9 0.9 0.0 1.0 100 -1.7 -1.7 0.0
IVS18-1G>A
Sequence Walker  
c48614771t 48614795 -24 48614771 1.2 1.2 0.0 1.0 100 -1.7 -1.7 0.0
IVS18-1G>A
Sequence Walker  
c48614771t 48614734 37 48614771 2.5 2.5 0.0 1.0 100 -1.4 -1.4 0.0
IVS18-1G>A
Sequence Walker  
c48614771t 48614725 46 48614771 2.3 2.3 0.0 1.0 100 -1.4 -1.4 0.0
IVS19+1G>A
Sequence Walker  
c48614671t 48614681 -10 48614671 3.6 3.6 0.0 1.0 100 -1.1 -1.1 0.0
IVS19+1G>A
Sequence Walker  
c48614671t 48614643 28 48614671 0.4 0.4 0.0 1.0 100 -1.8 -1.8 0.0
IVS19+1G>A
Sequence Walker  
c48614671t 48614638 33 48614671 2.6 2.6 0.0 1.0 100 -1.4 -1.4 0.0
IVS19+1G>A
Sequence Walker  
c48614671t 48614634 37 48614671 0.9 0.9 0.0 1.0 100 -1.8 -1.8 0.0
IVS19+1G>A
Sequence Walker  
c48614671t 48614632 39 48614671 0.2 0.2 0.0 1.0 100 -1.9 -1.9 0.0
IVS19+1G>A
Sequence Walker  
c48614671t 48614625 46 48614671 3.9 3.9 0.0 1.0 100 -1.1 -1.1 0.0
IVS19+1G>C
Sequence Walker  
c48614671g 48614681 -10 48614671 3.6 3.6 0.0 1.0 100 -1.1 -1.1 0.0
IVS19+1G>C
Sequence Walker  
c48614671g 48614643 28 48614671 0.4 0.4 0.0 1.0 100 -1.8 -1.8 0.0
IVS19+1G>C
Sequence Walker  
c48614671g 48614638 33 48614671 2.6 2.6 0.0 1.0 100 -1.4 -1.4 0.0
IVS19+1G>C
Sequence Walker  
c48614671g 48614634 37 48614671 0.9 0.9 0.0 1.0 100 -1.8 -1.8 0.0
IVS19+1G>C
Sequence Walker  
c48614671g 48614632 39 48614671 0.2 0.2 0.0 1.0 100 -1.9 -1.9 0.0
IVS19+1G>C
Sequence Walker  
c48614671g 48614625 46 48614671 3.9 3.9 0.0 1.0 100 -1.1 -1.1 0.0
IVS20+2T>C
Sequence Walker  
a48614485g 48614459 27 48614486 9.9 9.9 0.0 1.0 100 0.2 0.2 0.0
IVS20+2T>C
Sequence Walker  
a48614485g 48614454 32 48614486 7.0 7.0 0.0 1.0 100 -0.4 -0.4 0.0
IVS20+2T>C
Sequence Walker  
a48614485g 48614439 47 48614486 5.1 5.1 0.0 1.0 100 -0.8 -0.8 0.0
IVS20-2A>G
Sequence Walker  
t48614270c 48614297 -28 48614269 4.5 4.5 0.0 1.0 100 -1.0 -1.0 0.0
IVS20-2A>G
Sequence Walker  
t48614270c 48614280 -11 48614269 1.2 1.2 0.0 1.0 100 -1.7 -1.7 0.0
IVS20-2A>G
Sequence Walker  
t48614270c 48614279 -10 48614269 0.8 0.8 0.0 1.0 100 -1.8 -1.8 0.0
IVS20-2A>G
Sequence Walker  
t48614270c 48614232 37 48614269 0.4 0.4 0.0 1.0 100 -1.9 -1.9 0.0
IVS20-2A>G
Sequence Walker  
t48614270c 48614229 40 48614269 0.5 0.5 0.0 1.0 100 -1.8 -1.8 0.0
IVS3+1G>C
Sequence Walker  
c48618995g 48618966 29 48618995 0.0 0.0 0.0 1.0 100 -1.9 -1.9 0.0
IVS3+1G>C
Sequence Walker  
c48618995g 48618944 51 48618995 4.3 4.3 0.0 1.0 100 -1.0 -1.0 0.0
IVS5-1G>A
Sequence Walker  
c48617945t 48617965 -20 48617945 0.6 0.6 0.0 1.0 100 -1.8 -1.8 0.0
IVS5-1G>A
Sequence Walker  
c48617945t 48617955 -10 48617945 0.2 0.2 0.0 1.0 100 -1.9 -1.9 0.0
IVS5-2A>G
Sequence Walker  
t48617946c 48617965 -20 48617945 0.6 0.6 0.0 1.0 100 -1.8 -1.8 0.0
IVS5-2A>G
Sequence Walker  
t48617946c 48617955 -10 48617945 0.2 0.2 0.0 1.0 100 -1.9 -1.9 0.0
IVS8+1G>C
Sequence Walker  
c48617388g 48617351 37 48617388 1.3 1.3 0.0 1.0 100 -1.6 -1.6 0.0
IVS8+1G>C
Sequence Walker  
c48617388g 48617343 45 48617388 3.1 3.1 0.0 1.0 100 -1.3 -1.3 0.0
c.1299+1G>C
Sequence Walker  
c48614873g 48614830 43 48614873 8.1 8.1 0.0 1.0 100 -0.2 -0.2 0.0