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

Sequence Walker  




IVS22-1G>T


Instruction: c48613888a; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48613905 -17 48613888 2.5 2.5 0.0 1.0 100 -1.7 -1.7 0.0
No change 48613877 11 48613888 5.7 5.7 0.0 1.0 100 -0.7 -0.7 0.0
No change 48613871 17 48613888 1.4 1.4 0.0 1.0 100 -2.0 -2.0 0.0



IVS22+3A>G


Instruction: t48614010c; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48614056 -44 48614012 3.1 3.1 0.0 1.0 100 -1.5 -1.5 0.0
No change 48614029 -17 48614012 1.6 1.6 0.0 1.0 100 -1.9 -1.9 0.0
Decreased 48614012 0 48614012 6.7 6.3 -0.4 -1.3 75.7 -0.4 -0.5 -0.1



IVS25-1G>A


Instruction: c48612488t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
Increased 48612486 2 48612488 0.5 2.8 2.3 4.9 489.0 -2.3 -1.6 0.7
No change 48612477 11 48612488 1.8 1.8 0.0 1.0 100 -1.9 -1.9 0.0
No change 48612468 20 48612488 1.4 1.4 0.0 1.0 100 -2.0 -2.0 0.0
No change 48612459 29 48612488 2.5 2.5 0.0 1.0 100 -1.7 -1.7 0.0



IVS26+1G>A


Instruction: c48612433t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48612477 -44 48612433 1.8 1.8 0.0 1.0 100 -1.9 -1.9 0.0
No change 48612468 -35 48612433 1.4 1.4 0.0 1.0 100 -2.0 -2.0 0.0
No change 48612459 -26 48612433 2.5 2.5 0.0 1.0 100 -1.7 -1.7 0.0
No change 48612429 4 48612433 0.8 0.8 0.0 1.0 100 -2.2 -2.2 0.0
Decreased 48612433 0 48612433 5.4 -7.4 -12.8 -42.4 NA -0.8 -4.7 -3.9



IVS26+1G>T


Instruction: c48612433a; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48612477 -44 48612433 1.8 1.8 0.0 1.0 100 -1.9 -1.9 0.0
No change 48612468 -35 48612433 1.4 1.4 0.0 1.0 100 -2.0 -2.0 0.0
No change 48612459 -26 48612433 2.5 2.5 0.0 1.0 100 -1.7 -1.7 0.0
No change 48612429 4 48612433 0.8 0.8 0.0 1.0 100 -2.2 -2.2 0.0
Decreased 48612433 0 48612433 5.4 -2.4 -7.8 -42.4 NA -0.8 -3.2 -2.4



IVS26-2A>C


Instruction: t48612292g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48612271 20 48612291 0.8 0.8 0.0 1.0 100 -2.2 -2.2 0.0



IVS27-1G>C


Instruction: c48612134g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48612159 -25 48612134 2.7 2.7 0.0 1.0 100 -1.6 -1.6 0.0
No change 48612123 11 48612134 1.6 1.6 0.0 1.0 100 -2.0 -2.0 0.0
No change 48612114 20 48612134 6.2 6.2 0.0 1.0 100 -0.5 -0.5 0.0



IVS41+4A>C


Instruction: t48608339g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48608359 -17 48608342 6.5 6.5 0.0 1.0 100 -0.5 -0.5 0.0
No change 48608347 -5 48608342 5.4 5.4 0.0 1.0 100 -0.8 -0.8 0.0
Decreased 48608342 0 48608342 9.8 6.7 -3.1 -8.4 11.9 0.5 -0.4 -0.9



IVS47+1G>A


Instruction: c48606454t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48606471 -17 48606454 4.9 4.9 0.0 1.0 100 -1.0 -1.0 0.0
Decreased 48606454 0 48606454 3.0 -9.8 -12.8 -8.2 NA -1.5 -5.4 -3.9



IVS47-3C>G


Instruction: g48606365c; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48606393 -30 48606363 5.2 5.2 0.0 1.0 100 -0.9 -0.9 0.0



IVS48+1G>A

Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z )Δ Z
Decreased 48606079 0 48606079 8.2 -4.6 -12.8 -299.8 NA 0.1 -3.8 -3.9
Increased 48606082 -3 48606079 -0.9 1.7 2.6 3.2 322.7 -2.7 -1.9 0.8



IVS11+3-+6delGAGT

Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z )Δ Z
Decreased 48616449 0 48616449 6.6 -10.7 -17.3 -98.2 NA -0.4 -5.7 -5.3



IVS12+1G>A


Instruction: c48616056t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48616100 -44 48616056 0.6 0.6 0.0 1.0 100 -2.2 -2.2 0.0
No change 48616091 -35 48616056 1.4 1.4 0.0 1.0 100 -2.0 -2.0 0.0
Decreased 48616056 0 48616056 11.4 -1.4 -12.8 -2677.4 NA 1.0 -2.9 -3.9



IVS13-10T>A


Instruction: a48615817t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48615812 -4 48615808 0.5 0.5 0.0 1.0 100 -2.3 -2.3 0.0
No change 48615788 20 48615808 9.0 9.0 0.0 1.0 100 0.3 0.3 0.0
Increased 48615820 -12 48615808 -0.3 2.8 3.1 6.8 676.1 -2.5 -1.6 0.9



IVS14+5G>A


Instruction: c48615749t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48615788 -35 48615753 9.0 9.0 0.0 1.0 100 0.3 0.3 0.0
Decreased 48615753 0 48615753 6.2 2.7 -3.5 -11.5 8.7 -0.5 -1.6 -1.1



IVS15-33--44delCTGCCATCTCTT


Instruction: d48615661,48615672; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48615638 2 48615640 1.9 1.9 0.0 1.0 100 -1.9 -1.9 0.0



IVS16-2A>G


Instruction: t48615107c; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48615158 -52 48615106 2.3 2.3 0.0 1.0 100 -1.7 -1.7 0.0
No change 48615153 -47 48615106 3.8 3.8 0.0 1.0 100 -1.3 -1.3 0.0
No change 48615138 -32 48615106 2.8 2.8 0.0 1.0 100 -1.6 -1.6 0.0
Decreased 48615104 2 48615106 4.9 3.9 -1.0 -2.0 49.9 -0.9 -1.2 -0.3
No change 48615059 47 48615106 5.8 5.8 0.0 1.0 100 -0.7 -0.7 0.0



IVS17+1G>C


Instruction: c48615006g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48615057 -51 48615006 2.9 2.9 0.0 1.0 100 -1.6 -1.6 0.0
No change 48615050 -44 48615006 7.4 7.4 0.0 1.0 100 -0.2 -0.2 0.0
No change 48615023 -17 48615006 1.8 1.8 0.0 1.0 100 -1.9 -1.9 0.0
Decreased 48615006 0 48615006 6.6 -3.2 -9.8 -99.1 NA -0.4 -3.4 -3.0



IVS18+1G>A


Instruction: c48614873t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48614908 -35 48614873 2.0 2.0 0.0 1.0 100 -1.8 -1.8 0.0
No change 48614890 -17 48614873 1.6 1.6 0.0 1.0 100 -1.9 -1.9 0.0
No change 48614881 -8 48614873 3.6 3.6 0.0 1.0 100 -1.3 -1.3 0.0
Decreased 48614873 0 48614873 9.3 -3.5 -12.8 -613.6 NA 0.4 -3.5 -3.9



IVS18-1G>A


Instruction: c48614771t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
Increased 48614769 2 48614771 1.3 3.6 2.3 4.9 489.0 -2.0 -1.4 0.7
No change 48614760 11 48614771 2.2 2.2 0.0 1.0 100 -1.8 -1.8 0.0
No change 48614751 20 48614771 1.6 1.6 0.0 1.0 100 -1.9 -1.9 0.0
No change 48614733 38 48614771 2.2 2.2 0.0 1.0 100 -1.8 -1.8 0.0



IVS19+1G>A


Instruction: c48614671t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48614679 -8 48614671 5.1 5.1 0.0 1.0 100 -0.9 -0.9 0.0
No change 48614625 46 48614671 2.8 2.8 0.0 1.0 100 -1.6 -1.6 0.0
Decreased 48614671 0 48614671 5.8 -7.0 -12.8 -57.3 NA -0.7 -4.6 -3.9



IVS19+1G>C


Instruction: c48614671g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48614679 -8 48614671 5.1 5.1 0.0 1.0 100 -0.9 -0.9 0.0
No change 48614625 46 48614671 2.8 2.8 0.0 1.0 100 -1.6 -1.6 0.0
Decreased 48614671 0 48614671 5.8 -4.0 -9.8 -57.3 NA -0.7 -3.6 -3.0



IVS20+2T>C


Instruction: a48614485g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48614530 -44 48614486 1.6 1.6 0.0 1.0 100 -1.9 -1.9 0.0
No change 48614503 -17 48614486 1.6 1.6 0.0 1.0 100 -1.9 -1.9 0.0
No change 48614494 -8 48614486 0.5 0.5 0.0 1.0 100 -2.3 -2.3 0.0
Decreased 48614486 0 48614486 7.2 -0.3 -7.5 -145.0 NA -0.3 -2.5 -2.3



IVS20-2A>G


Instruction: t48614270c; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48614262 7 48614269 0.7 0.7 0.0 1.0 100 -2.2 -2.2 0.0
No change 48614258 11 48614269 0.2 0.2 0.0 1.0 100 -2.4 -2.4 0.0
No change 48614231 38 48614269 1.2 1.2 0.0 1.0 100 -2.1 -2.1 0.0
No change 48614222 47 48614269 3.8 3.8 0.0 1.0 100 -1.3 -1.3 0.0



IVS3+1G>C


Instruction: c48618995g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48618957 38 48618995 2.1 2.1 0.0 1.0 100 -1.8 -1.8 0.0
Decreased 48618995 0 48618995 5.7 -4.1 -9.8 -52.2 NA -0.7 -3.7 -3.0



IVS8+1G>C


Instruction: c48617388g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48617414 -26 48617388 8.6 8.6 0.0 1.0 100 0.2 0.2 0.0
No change 48617405 -17 48617388 1.1 1.1 0.0 1.0 100 -2.1 -2.1 0.0
Decreased 48617388 0 48617388 4.6 -5.2 -9.8 -24.9 NA -1.0 -4.0 -3.0



IVS9-1G>T


Instruction: c48616674a; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48616718 -44 48616674 1.8 1.8 0.0 1.0 100 -1.9 -1.9 0.0
No change 48616715 -41 48616674 5.3 5.3 0.0 1.0 100 -0.8 -0.8 0.0
No change 48616645 29 48616674 9.2 9.2 0.0 1.0 100 0.4 0.4 0.0
No change 48616639 35 48616674 1.6 1.6 0.0 1.0 100 -1.9 -1.9 0.0



c.1299+1G>C


Instruction: c48614873g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48614908 -35 48614873 2.0 2.0 0.0 1.0 100 -1.8 -1.8 0.0
No change 48614890 -17 48614873 1.6 1.6 0.0 1.0 100 -1.9 -1.9 0.0
No change 48614881 -8 48614873 3.6 3.6 0.0 1.0 100 -1.3 -1.3 0.0
Decreased 48614873 0 48614873 9.3 -0.5 -9.8 -613.6 NA 0.4 -2.6 -3.0



c.333G>T;.c333+1G>C


Instruction: c48619277a.c48619192g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 48619294 -102 48619192 1.3 1.3 0.0 1.0 100 -2.0 -2.0 0.0
No change 48619289 -97 48619192 3.4 3.4 0.0 1.0 100 -1.4 -1.4 0.0
No change 48619284 -92 48619192 0.5 0.5 0.0 1.0 100 -2.3 -2.3 0.0
Decreased 48619274 -82 48619192 1.3 0.8 -0.4 -1.4 73.7 -2.1 -2.2 -0.1
No change 48619267 -75 48619192 0.2 0.2 0.0 1.0 100 -2.4 -2.4 0.0
No change 48619225 -33 48619192 2.8 2.8 0.0 1.0 100 -1.6 -1.6 0.0
Decreased 48619192 0 48619192 7.8 -2.0 -9.8 -227.8 NA -0.1 -3.0 -3.0

Legend:    Site Abolished   Leaky Site   Cryptic Site created   Strengthened Pre-existing site   Pre-existing Site   Weakened Pre-existing Site