All Mutations grouped

Gene:	WFS1
mRNA Accession:	AF084481
Mutation:	WFS1.txt
Chromosome:	chr 4
Sequence Walker

c.376G>A

Instruction: g6283501a; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6283549	109	6283440	0.9	0.9	0.0	1.0	100	-2.2	-2.2	0.0

c.397G>A

Instruction: g6283522a; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6283549	-37	6283586	0.9	0.9	0.0	1.0	100	-2.2	-2.2	0.0
No change	6283566	-20	6283586	3.7	3.7	0.0	1.0	100	-1.3	-1.3	0.0

c.505G>A

Instruction: g6285695a; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6285673	23	6285650	0.2	0.2	0.0	1.0	100	-2.4	-2.4	0.0
No change	6285677	27	6285650	9.7	9.7	0.0	1.0	100	0.5	0.5	0.0
No change	6285707	57	6285650	1.6	1.6	0.0	1.0	100	-1.9	-1.9	0.0
No change	6285716	66	6285650	0.6	0.6	0.0	1.0	100	-2.2	-2.2	0.0
No change	6285734	84	6285650	0.1	0.1	0.0	1.0	100	-2.4	-2.4	0.0
No change	6285739	89	6285650	1.6	1.6	0.0	1.0	100	-1.9	-1.9	0.0

c.631G>A

Instruction: g6285821a; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6285773	-49	6285822	4.8	4.8	0.0	1.0	100	-1.0	-1.0	0.0
No change	6285800	-22	6285822	0.3	0.3	0.0	1.0	100	-2.4	-2.4	0.0
No change	6285809	-13	6285822	3.4	3.4	0.0	1.0	100	-1.4	-1.4	0.0
Decreased	6285822	0	6285822	5.9	2.8	-3.1	-8.3	12.0	-0.6	-1.6	-0.9

c.874C>T

Instruction: c6295123t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295111	1	6295110	4.4	4.4	0.0	1.0	100	-1.1	-1.1	0.0
Increased	6295119	9	6295110	1.0	1.1	0.0	1.0	102.1	-2.1	-2.1	0.0

c.887T>G

Instruction: t6295136g; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295111	1	6295110	4.4	4.4	0.0	1.0	100	-1.1	-1.1	0.0
No change	6295119	9	6295110	1.0	1.0	0.0	1.0	100	-2.1	-2.1	0.0
No change	6295181	71	6295110	0.8	0.8	0.0	1.0	100	-2.2	-2.2	0.0

c.1046_1048delTCT

Instruction: d6295295,6295297; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295246	136	6295110	0.2	0.2	0.0	1.0	100	-2.4	-2.4	0.0
No change	6295321	211	6295110	4.2	4.2	0.0	1.0	100	-1.2	-1.2	0.0
No change	6295339	229	6295110	3.5	3.5	0.0	1.0	100	-1.4	-1.4	0.0

c.1060_1062delTTC

Instruction: d6295309,6295311; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295321	211	6295110	4.2	4.2	0.0	1.0	100	-1.2	-1.2	0.0
No change	6295339	229	6295110	3.5	3.5	0.0	1.0	100	-1.4	-1.4	0.0

c.1309G>C

Instruction: g6295558c; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295570	460	6295110	0.7	0.7	0.0	1.0	100	-2.2	-2.2	0.0

c.1328G>T

Instruction: g6295577t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295570	460	6295110	0.7	0.7	0.0	1.0	100	-2.2	-2.2	0.0

c.1511C>T

Instruction: c6295760t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295750	640	6295110	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0
Increased	6295761	651	6295110	-0.4	0.4	0.7	1.3	129.6	-2.5	-2.3	0.2

c.1514G>A

Instruction: g6295763a; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295750	640	6295110	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0
No change	6295810	700	6295110	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0
Increased	6295761	651	6295110	-0.4	0.0	0.4	1.0	103.1	-2.5	-2.4	0.1

c.1546_1548delTTC

Instruction: d6295795,6295797; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295750	640	6295110	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0
No change	6295810	700	6295110	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0

c.1620_1622delGTG

Instruction: d6295869,6295871; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295855	745	6295110	5.2	5.2	0.0	1.0	100	-0.9	-0.9	0.0
Increased	6295866	756	6295110	0.8	4.7	4.0	15.5	1550.5	-2.2	-1.0	1.2
Decreased	6295869	759	6295110	4.8	-13.3	-18.1	-27.2	NA	-1.0	-6.5	-5.5
Decreased	6295871	761	6295110	3.6	-23.6	-27.2	-12.3	NA	-1.3	-9.6	-8.3
Increased	6295868	758	6295110	-14.9	3.2	18.1	9.1	906.2	-7.0	-1.5	5.5

c.1628T>G

Instruction: t6295877g; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295855	745	6295110	5.2	5.2	0.0	1.0	100	-0.9	-0.9	0.0
No change	6295866	756	6295110	0.8	0.8	0.0	1.0	100	-2.2	-2.2	0.0
No change	6295869	759	6295110	4.8	4.8	0.0	1.0	100	-1.0	-1.0	0.0
Increased	6295871	761	6295110	3.6	4.5	0.9	1.9	190.5	-1.3	-1.1	0.3

c.1637T>A

Instruction: t6295886a; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295855	745	6295110	5.2	5.2	0.0	1.0	100	-0.9	-0.9	0.0
No change	6295866	756	6295110	0.8	0.8	0.0	1.0	100	-2.2	-2.2	0.0
No change	6295869	759	6295110	4.8	4.8	0.0	1.0	100	-1.0	-1.0	0.0
No change	6295871	761	6295110	3.6	3.6	0.0	1.0	100	-1.3	-1.3	0.0

c.1673G>A

Instruction: g6295922a; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295871	761	6295110	3.6	3.6	0.0	1.0	100	-1.3	-1.3	0.0
No change	6295969	859	6295110	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0

c.1816G>C

Instruction: g6296065c; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296056	946	6295110	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
No change	6296085	975	6295110	2.5	2.5	0.0	1.0	100	-1.7	-1.7	0.0
No change	6296110	1000	6295110	5.3	5.3	0.0	1.0	100	-0.8	-0.8	0.0
Decreased	6296063	953	6295110	1.3	-3.1	-4.4	-2.4	NA	-2.0	-3.4	-1.3

c.1820C>G

Instruction: c6296069g; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296056	946	6295110	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
Increased	6296063	953	6295110	1.3	1.9	0.6	1.5	152.8	-2.0	-1.9	0.2
No change	6296085	975	6295110	2.5	2.5	0.0	1.0	100	-1.7	-1.7	0.0
No change	6296110	1000	6295110	5.3	5.3	0.0	1.0	100	-0.8	-0.8	0.0
Increased	6296065	955	6295110	-2.1	1.9	3.9	3.7	366.1	-3.1	-1.9	1.2

c.1885C>T

Instruction: c6296134t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296085	975	6295110	2.5	2.5	0.0	1.0	100	-1.7	-1.7	0.0
No change	6296110	1000	6295110	5.3	5.3	0.0	1.0	100	-0.8	-0.8	0.0
No change	6296119	1009	6295110	4.8	4.8	0.0	1.0	100	-1.0	-1.0	0.0
No change	6296146	1036	6295110	0.7	0.7	0.0	1.0	100	-2.2	-2.2	0.0
No change	6296161	1051	6295110	5.7	5.7	0.0	1.0	100	-0.7	-0.7	0.0

c.2006A>G

Instruction: a6296255g; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
Decreased	6296253	1143	6295110	1.6	1.2	-0.4	-1.3	75.7	-1.9	-2.1	-0.1
Decreased	6296258	1148	6295110	5.0	4.0	-1.0	-2.0	49.9	-0.9	-1.2	-0.3
No change	6296265	1155	6295110	1.9	1.9	0.0	1.0	100	-1.8	-1.8	0.0

c.2051C>T

Instruction: c6296300t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296253	1143	6295110	1.6	1.6	0.0	1.0	100	-1.9	-1.9	0.0
No change	6296258	1148	6295110	5.0	5.0	0.0	1.0	100	-0.9	-0.9	0.0
No change	6296265	1155	6295110	1.9	1.9	0.0	1.0	100	-1.8	-1.8	0.0
No change	6296346	1236	6295110	0.6	0.6	0.0	1.0	100	-2.3	-2.3	0.0
Increased	6296299	1189	6295110	-1.9	5.6	7.5	47.5	4750.0	-3.0	-0.7	2.3

c.2068T>C

Instruction: t6296317c; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296346	1236	6295110	0.6	0.6	0.0	1.0	100	-2.3	-2.3	0.0
No change	6296364	1254	6295110	6.4	6.4	0.0	1.0	100	-0.5	-0.5	0.0

c.2084G>T

Instruction: g6296333t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296346	1236	6295110	0.6	0.6	0.0	1.0	100	-2.3	-2.3	0.0
No change	6296364	1254	6295110	6.4	6.4	0.0	1.0	100	-0.5	-0.5	0.0
No change	6296374	1264	6295110	2.4	2.4	0.0	1.0	100	-1.7	-1.7	0.0

c.2100G>T

Instruction: g6296349t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
Decreased	6296346	1236	6295110	0.6	0.0	-0.5	-1.4	69.3	-2.3	-2.4	-0.2
No change	6296364	1254	6295110	6.4	6.4	0.0	1.0	100	-0.5	-0.5	0.0
No change	6296374	1264	6295110	2.4	2.4	0.0	1.0	100	-1.7	-1.7	0.0

c.2122C>T

Instruction: c6296371t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296346	1236	6295110	0.6	0.6	0.0	1.0	100	-2.3	-2.3	0.0
No change	6296364	1254	6295110	6.4	6.4	0.0	1.0	100	-0.5	-0.5	0.0
Decreased	6296374	1264	6295110	2.4	0.8	-1.6	-3.0	32.9	-1.7	-2.2	-0.5

c.2149G>A

Instruction: g6296398a; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296364	1254	6295110	6.4	6.4	0.0	1.0	100	-0.5	-0.5	0.0
No change	6296374	1264	6295110	2.4	2.4	0.0	1.0	100	-1.7	-1.7	0.0
Increased	6296400	1290	6295110	-2.1	0.2	2.3	1.1	111.3	-3.1	-2.4	0.7

c.2171C>T

Instruction: c6296420t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296374	-1346	6297720	2.4	2.4	0.0	1.0	100	-1.7	-1.7	0.0
No change	6296456	-1264	6297720	1.2	1.2	0.0	1.0	100	-2.1	-2.1	0.0

c.2206G>A
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z )	Δ Z
Decreased	6296456	-1264	6297720	1.2	-1.8	-3.1	-2.4	NA	-2.1	-3.0	-0.9

c.2338G>C

Instruction: g6296587c; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296571	-1149	6297720	0.9	0.9	0.0	1.0	100	-2.2	-2.2	0.0
Decreased	6296584	-1136	6297720	2.1	1.6	-0.5	-1.4	70.6	-1.8	-1.9	-0.2

c.2378G>C

Instruction: g6296627c; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296584	-1136	6297720	2.1	2.1	0.0	1.0	100	-1.8	-1.8	0.0

c.2654C>T

Instruction: c6296903t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296928	-792	6297720	1.0	1.0	0.0	1.0	100	-2.1	-2.1	0.0
No change	6296949	-771	6297720	1.1	1.1	0.0	1.0	100	-2.1	-2.1	0.0

c.406C>T

Instruction: c6283531t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6283549	-37	6283586	0.9	0.9	0.0	1.0	100	-2.2	-2.2	0.0
No change	6283566	-20	6283586	3.7	3.7	0.0	1.0	100	-1.3	-1.3	0.0
Increased	6283530	-56	6283586	-3.0	4.5	7.5	22.9	2289.3	-3.3	-1.1	2.3

c.532_537del6

Instruction: d6285722,6285727; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6285673	23	6285650	0.2	0.2	0.0	1.0	100	-2.4	-2.4	0.0
No change	6285677	27	6285650	9.7	9.7	0.0	1.0	100	0.5	0.5	0.0
No change	6285707	57	6285650	1.6	1.6	0.0	1.0	100	-1.9	-1.9	0.0
Increased	6285716	66	6285650	0.6	1.0	0.4	1.3	131.7	-2.2	-2.1	0.1
No change	6285734	84	6285650	0.1	0.1	0.0	1.0	100	-2.4	-2.4	0.0
No change	6285739	89	6285650	1.6	1.6	0.0	1.0	100	-1.9	-1.9	0.0

c.599delT

Instruction: d6285789,6285789; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6285739	-83	6285822	1.6	1.6	0.0	1.0	100	-1.9	-1.9	0.0
No change	6285773	-49	6285822	4.8	4.8	0.0	1.0	100	-1.0	-1.0	0.0
No change	6285800	-22	6285822	0.3	0.3	0.0	1.0	100	-2.4	-2.4	0.0
No change	6285809	-13	6285822	3.4	3.4	0.0	1.0	100	-1.4	-1.4	0.0
No change	6285822	0	6285822	5.9	5.9	0.0	1.0	100	-0.6	-0.6	0.0

c.670C>T

Instruction: c6286409t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6286439	69	6286370	4.4	4.4	0.0	1.0	100	-1.1	-1.1	0.0
No change	6286450	80	6286370	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0
No change	6286452	82	6286370	7.0	7.0	0.0	1.0	100	-0.3	-0.3	0.0
Increased	6286408	38	6286370	-7.4	0.1	7.5	1.1	108.4	-4.7	-2.4	2.3

c.676C>T

Instruction: c6286415t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6286439	-13	6286452	4.4	4.4	0.0	1.0	100	-1.1	-1.1	0.0
No change	6286450	-2	6286452	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0
No change	6286452	0	6286452	7.0	7.0	0.0	1.0	100	-0.3	-0.3	0.0
Increased	6286414	-38	6286452	-5.9	1.6	7.5	3.1	305.1	-4.2	-1.9	2.3

c.817G>T

Instruction: g6289599t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6289609	-35	6289644	1.0	1.0	0.0	1.0	100	-2.1	-2.1	0.0
No change	6289644	0	6289644	12.6	12.6	0.0	1.0	100	1.4	1.4	0.0

c.906C>A

Instruction: c6295155a; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295111	1	6295110	4.4	4.4	0.0	1.0	100	-1.1	-1.1	0.0
No change	6295119	9	6295110	1.0	1.0	0.0	1.0	100	-2.1	-2.1	0.0
No change	6295181	71	6295110	0.8	0.8	0.0	1.0	100	-2.2	-2.2	0.0
Increased	6295152	42	6295110	-0.4	2.7	3.1	6.4	640.2	-2.6	-1.6	0.9

c.1038_1039insC

Instruction: i6295287,6295288c; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295246	136	6295110	0.2	0.2	0.0	1.0	100	-2.4	-2.4	0.0
No change	6295321	211	6295110	4.2	4.2	0.0	1.0	100	-1.2	-1.2	0.0

c.1096C>T

Instruction: c6295345t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295321	211	6295110	4.2	4.2	0.0	1.0	100	-1.2	-1.2	0.0
Decreased	6295339	229	6295110	3.5	3.2	-0.3	-1.2	80.2	-1.4	-1.5	-0.1

c.1112G>A

Instruction: g6295361a; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295321	211	6295110	4.2	4.2	0.0	1.0	100	-1.2	-1.2	0.0
No change	6295339	229	6295110	3.5	3.5	0.0	1.0	100	-1.4	-1.4	0.0

c.1230_1233delCTCT

Instruction: d6295479,6295482; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295432	322	6295110	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0

c.1362_1377del16

Instruction: d6295611,6295626; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295570	460	6295110	0.7	0.7	0.0	1.0	100	-2.2	-2.2	0.0
No change	6295636	526	6295110	1.8	1.8	0.0	1.0	100	-1.9	-1.9	0.0

c.1380_1388del9
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z )	Δ Z
Decreased	6295636	526	6295110	1.8	-15.9	-17.7	-3.5	NA	-1.9	-7.3	-5.4

c.1433G>A

Instruction: g6295682a; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295636	526	6295110	1.8	1.8	0.0	1.0	100	-1.9	-1.9	0.0
No change	6295696	586	6295110	1.2	1.2	0.0	1.0	100	-2.1	-2.1	0.0

c.1456C>T

Instruction: c6295705t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295696	586	6295110	1.2	1.2	0.0	1.0	100	-2.1	-2.1	0.0
No change	6295750	640	6295110	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0

c.1522_1536del15

Instruction: d6295771,6295785; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295750	640	6295110	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0
No change	6295810	700	6295110	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0

c.1523_1524delAT

Instruction: d6295772,6295773; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295750	640	6295110	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0
No change	6295810	700	6295110	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0

c.1525_1537del13

Instruction: d6295774,6295786; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295750	640	6295110	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0
No change	6295810	700	6295110	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0

c.1549delC

Instruction: d6295798,6295798; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295750	640	6295110	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0
No change	6295810	700	6295110	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0

c.1558C>T

Instruction: c6295807t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295855	745	6295110	5.2	5.2	0.0	1.0	100	-0.9	-0.9	0.0
Decreased	6295810	700	6295110	1.3	-0.3	-1.6	-2.5	NA	-2.0	-2.5	-0.5

c.1581_1582insC

Instruction: i6295830,6295831c; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295810	700	6295110	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0
No change	6295855	745	6295110	5.2	5.2	0.0	1.0	100	-0.9	-0.9	0.0
No change	6295866	756	6295110	0.8	0.8	0.0	1.0	100	-2.2	-2.2	0.0
No change	6295869	759	6295110	4.8	4.8	0.0	1.0	100	-1.0	-1.0	0.0
No change	6295871	761	6295110	3.6	3.6	0.0	1.0	100	-1.3	-1.3	0.0

c.1584C>G

Instruction: c6295833g; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295810	700	6295110	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0
No change	6295855	745	6295110	5.2	5.2	0.0	1.0	100	-0.9	-0.9	0.0
No change	6295866	756	6295110	0.8	0.8	0.0	1.0	100	-2.2	-2.2	0.0
No change	6295869	759	6295110	4.8	4.8	0.0	1.0	100	-1.0	-1.0	0.0
No change	6295871	761	6295110	3.6	3.6	0.0	1.0	100	-1.3	-1.3	0.0

c.1602C>G

Instruction: c6295851g; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295810	700	6295110	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0
No change	6295855	745	6295110	5.2	5.2	0.0	1.0	100	-0.9	-0.9	0.0
No change	6295866	756	6295110	0.8	0.8	0.0	1.0	100	-2.2	-2.2	0.0
No change	6295869	759	6295110	4.8	4.8	0.0	1.0	100	-1.0	-1.0	0.0
No change	6295871	761	6295110	3.6	3.6	0.0	1.0	100	-1.3	-1.3	0.0

c.1611_1624del14

Instruction: d6295860,6295873; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295810	700	6295110	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0
Increased	6295855	745	6295110	5.2	5.9	0.8	1.7	169.2	-0.9	-0.6	0.2
Decreased	6295866	756	6295110	0.8	-16.7	-17.5	-1.7	NA	-2.2	-7.5	-5.3
Decreased	6295869	759	6295110	4.8	-14.9	-19.6	-27.2	NA	-1.0	-7.0	-6.0
Decreased	6295871	761	6295110	3.6	-0.9	-4.5	-12.3	NA	-1.3	-2.7	-1.4
Increased	6295857	747	6295110	-1.6	3.6	5.3	12.3	1228.8	-2.9	-1.3	1.6

c.1699_1704del6

Instruction: d6295948,6295953; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6295969	859	6295110	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0
No change	6295987	877	6295110	6.6	6.6	0.0	1.0	100	-0.4	-0.4	0.0

c.1839G>A

Instruction: g6296088a; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296056	946	6295110	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
No change	6296063	953	6295110	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0
Increased	6296085	975	6295110	2.5	5.1	2.6	5.9	592.5	-1.7	-0.9	0.8
No change	6296110	1000	6295110	5.3	5.3	0.0	1.0	100	-0.8	-0.8	0.0
No change	6296119	1009	6295110	4.8	4.8	0.0	1.0	100	-1.0	-1.0	0.0

c.1999C>T

Instruction: c6296248t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296253	1143	6295110	1.6	1.6	0.0	1.0	100	-1.9	-1.9	0.0
No change	6296258	1148	6295110	5.0	5.0	0.0	1.0	100	-0.9	-0.9	0.0
No change	6296265	1155	6295110	1.9	1.9	0.0	1.0	100	-1.8	-1.8	0.0
Increased	6296247	1137	6295110	-4.6	2.9	7.5	7.5	749.5	-3.8	-1.6	2.3

c.2002C>T

Instruction: c6296251t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
Decreased	6296253	1143	6295110	1.6	1.5	-0.1	-1.1	93.5	-1.9	-2.0	-0.0
No change	6296258	1148	6295110	5.0	5.0	0.0	1.0	100	-0.9	-0.9	0.0
No change	6296265	1155	6295110	1.9	1.9	0.0	1.0	100	-1.8	-1.8	0.0

c.2254G>T

Instruction: g6296503t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296456	-1264	6297720	1.2	1.2	0.0	1.0	100	-2.1	-2.1	0.0
Increased	6296502	-1218	6297720	-4.6	3.6	8.2	12.4	1241.2	-3.8	-1.3	2.5

c.2315_2316insT

Instruction: i6296564,6296565t; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296571	-1149	6297720	0.9	0.9	0.0	1.0	100	-2.2	-2.2	0.0
No change	6296584	-1136	6297720	2.1	2.1	0.0	1.0	100	-1.8	-1.8	0.0

c.2504_2505insC

Instruction: i6296753,6296754c; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296757	-963	6297720	0.8	0.8	0.0	1.0	100	-2.2	-2.2	0.0

c.2638_2643del6

Instruction: d6296887,6296892; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296928	1818	6295110	1.0	1.0	0.0	1.0	100	-2.1	-2.1	0.0

c.2642_2643delTC

Instruction: d6296891,6296892; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296928	1818	6295110	1.0	1.0	0.0	1.0	100	-2.1	-2.1	0.0

c.2648_2651delTCTT

Instruction: d6296897,6296900; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6296928	1818	6295110	1.0	1.0	0.0	1.0	100	-2.1	-2.1	0.0

IVS4+1G>A

Instruction: g6283586a; Sequence Walker
Type of change	Genomic Coordinate	Position Relative to Natural Site	Closest Natural Site	Initial(Ri)	Final(Ri)	Δ Ri	Fold change	% Binding (Final/Initial)	Initial(Z)	Final(z)	Δ Z
No change	6283549	-37	6283586	0.9	0.9	0.0	1.0	100	-2.2	-2.2	0.0
No change	6283566	-20	6283586	3.7	3.7	0.0	1.0	100	-1.3	-1.3	0.0
No change	6283590	4	6283586	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0
No change	6283594	8	6283586	1.1	1.1	0.0	1.0	100	-2.1	-2.1	0.0
No change	6283596	10	6283586	3.7	3.7	0.0	1.0	100	-1.3	-1.3	0.0
No change	6283634	48	6283586	1.9	1.9	0.0	1.0	100	-1.8	-1.8	0.0
Decreased	6283586	0	6283586	8.4	-4.4	-12.8	-336.3	NA	0.1	-3.8	-3.9

Legend:

Site Abolished

Leaky Site

Cryptic Site created

Strengthened Pre-existing site

Pre-existing Site

Weakened Pre-existing Site