All Mutations grouped

Gene:	USH1C
mRNA Accession:	BC016057
Chromosome:	chr 11
Sequence Walker

+91C>T

Instruction: g17593969a ; 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
Sites found for acceptor
No Change	17593937	18	17593955	0.2	0.2	0.0	1.0	100	-1.9	-1.9	0.0
Sites found for donor
No Change	17593964	-9	17593955	0.4	0.4	0.0	1.0	100	-2.3	-2.3	0.0
No Change	17593955	0	17593955	8.1	8.1	0.0	1.0	100	0.0	0.0	0.0
No Change	17593951	4	17593955	2.6	2.6	0.0	1.0	100	-1.6	-1.6	0.0
No Change	17593931	24	17593955	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0
increased	17593970	-15	17593955	-4.8	2.7	7.5	6.5	654.8	-3.9	-1.6	2.3

IVS5+1G>A

Instruction: c17587923t ; 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
Sites found for acceptor
Sites found for donor
No Change	17587972	-49	17587923	1.4	1.4	0.0	1.0	100	-2.0	-2.0	0.0
No Change	17587930	-7	17587923	7.3	7.3	0.0	1.0	100	-0.2	-0.2	0.0
No Change	17587919	4	17587923	4.0	4.0	0.0	1.0	100	-1.2	-1.2	0.0
No Change	17587887	36	17587923	6.4	6.4	0.0	1.0	100	-0.5	-0.5	0.0
Decreased	17587923	0	17587923	7.5	-5.3	-12.8	-184.4	NA	-0.1	-4.0	-3.9

IVS1-41insCC

Instruction: i17594063,17594064gg ; 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
Sites found for acceptor
No Change	17594085	-61	17594024	0.2	0.2	0.0	1.0	100	-1.9	-1.9	0.0
No Change	17594083	-59	17594024	3.7	3.7	0.0	1.0	100	-1.1	-1.1	0.0
No Change	17594024	0	17594024	8.6	8.6	0.0	1.0	100	-0.1	-0.1	0.0
Sites found for donor
No Change	17594082	-58	17594024	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
Decreased	17594065	-41	17594024	1.8	0.6	-1.2	-2.3	43.3	-1.9	-2.2	-0.4
No Change	17594048	-24	17594024	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
No Change	17594023	1	17594024	5.7	5.7	0.0	1.0	100	-0.7	-0.7	0.0

IVS1-45C>G

Instruction: g17594068c ; 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
Sites found for acceptor
No Change	17594085	-61	17594024	0.2	0.2	0.0	1.0	100	-1.9	-1.9	0.0
No Change	17594083	-59	17594024	3.7	3.7	0.0	1.0	100	-1.1	-1.1	0.0
No Change	17594024	0	17594024	8.6	8.6	0.0	1.0	100	-0.1	-0.1	0.0
Sites found for donor
No Change	17594116	-92	17594024	0.6	0.6	0.0	1.0	100	-2.3	-2.3	0.0
No Change	17594082	-58	17594024	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
Decreased	17594065	-41	17594024	1.8	0.7	-1.2	-2.2	44.7	-1.9	-2.2	-0.4
No Change	17594048	-24	17594024	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
No Change	17594023	1	17594024	5.7	5.7	0.0	1.0	100	-0.7	-0.7	0.0

IVS1-47G>T

Instruction: c17594070a ; 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
Sites found for acceptor
No Change	17594085	-61	17594024	0.2	0.2	0.0	1.0	100	-1.9	-1.9	0.0
No Change	17594083	-59	17594024	3.7	3.7	0.0	1.0	100	-1.1	-1.1	0.0
No Change	17594024	0	17594024	8.6	8.6	0.0	1.0	100	-0.1	-0.1	0.0
Sites found for donor
No Change	17594116	-92	17594024	0.6	0.6	0.0	1.0	100	-2.3	-2.3	0.0
No Change	17594082	-58	17594024	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
No Change	17594065	-41	17594024	1.8	1.8	0.0	1.0	100	-1.9	-1.9	0.0
No Change	17594048	-24	17594024	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
No Change	17594023	1	17594024	5.7	5.7	0.0	1.0	100	-0.7	-0.7	0.0
increased	17594071	-47	17594024	-3.7	4.6	8.2	23.5	2348.4	-3.5	-1.0	2.5

IVS2-16C>T

Instruction: g17592259a ; 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
Sites found for acceptor
Increased	17592244	0	17592244	7.1	7.4	0.2	1.2	116.1	-0.4	-0.3	0.0
Sites found for donor
No Change	17592298	-54	17592244	1.8	1.8	0.0	1.0	100	-1.9	-1.9	0.0
No Change	17592289	-45	17592244	2.0	2.0	0.0	1.0	100	-1.8	-1.8	0.0
No Change	17592276	-32	17592244	7.4	7.4	0.0	1.0	100	-0.2	-0.2	0.0
No Change	17592221	23	17592244	2.4	2.4	0.0	1.0	100	-1.7	-1.7	0.0

+381G>T

Instruction: c17591861a ; 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
Sites found for acceptor
No Change	17591884	-30	17591854	5.8	5.8	0.0	1.0	100	-0.7	-0.7	0.0
increased	17591855	-1	17591854	-0.1	2.1	2.2	4.4	436.2	-2.0	-1.5	0.5
Sites found for donor
No Change	17591880	-26	17591854	3.3	3.3	0.0	1.0	100	-1.4	-1.4	0.0
No Change	17591854	0	17591854	10.9	10.9	0.0	1.0	100	0.9	0.9	0.0
No Change	17591835	19	17591854	1.0	1.0	0.0	1.0	100	-2.1	-2.1	0.0
No Change	17591829	25	17591854	0.7	0.7	0.0	1.0	100	-2.2	-2.2	0.0

IVS6-45delC

Instruction: d17587786,17587786 ; 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
Sites found for acceptor
No Change	17587745	-3	17587742	2.8	2.8	0.0	1.0	100	-1.3	-1.3	0.0
No Change	17587742	0	17587742	12.6	12.6	0.0	1.0	100	0.8	0.8	0.0
Sites found for donor
No Change	17587822	-80	17587742	0.4	0.4	0.0	1.0	100	-2.3	-2.3	0.0
No Change	17587814	-72	17587742	7.9	7.9	0.0	1.0	100	-0.0	-0.0	0.0
No Change	17587797	-55	17587742	6.4	6.4	0.0	1.0	100	-0.5	-0.5	0.0

IVS7+61G>A

Instruction: c17587393t ; 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
Sites found for acceptor
No Change	17587354	99	17587453	1.6	1.6	0.0	1.0	100	-1.6	-1.6	0.0
No Change	17587341	112	17587453	1.9	1.9	0.0	1.0	100	-1.5	-1.5	0.0
Sites found for donor
No Change	17587435	18	17587453	2.2	2.2	0.0	1.0	100	-1.8	-1.8	0.0
No Change	17587427	26	17587453	0.9	0.9	0.0	1.0	100	-2.2	-2.2	0.0
No Change	17587421	32	17587453	4.1	4.1	0.0	1.0	100	-1.2	-1.2	0.0
No Change	17587404	49	17587453	0.1	0.1	0.0	1.0	100	-2.4	-2.4	0.0
Decreased	17587399	54	17587453	1.3	1.0	-0.4	-1.3	75.8	-2.0	-2.1	-0.1
No Change	17587383	70	17587453	0.4	0.4	0.0	1.0	100	-2.3	-2.3	0.0

IVS7-27G>A

Instruction: c17587169t ; 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
Sites found for acceptor
No Change	17587143	0	17587143	13.9	13.9	0.0	1.0	100	1.1	1.1	0.0
No Change	17587142	1	17587143	2.0	2.0	0.0	1.0	100	-1.5	-1.5	0.0
Sites found for donor
No Change	17587180	-37	17587143	1.5	1.5	0.0	1.0	100	-2.0	-2.0	0.0
No Change	17587139	4	17587143	0.6	0.6	0.0	1.0	100	-2.3	-2.3	0.0
Decreased	17587169	-26	17587143	0.5	-12.3	-12.8	-1.4	NA	-2.3	-6.2	-3.9

IVS9-66T>C

Instruction: a17584245g ; 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
Sites found for acceptor
No Change	17584262	-82	17584180	0.6	0.6	0.0	1.0	100	-1.8	-1.8	0.0
Decreased	17584236	-56	17584180	4.3	3.7	-0.6	-1.5	66.7	-1.0	-1.1	-0.1
Sites found for donor
No Change	17584295	-115	17584180	3.2	3.2	0.0	1.0	100	-1.5	-1.5	0.0

IVS13+21C>G

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
Unprocessed due to the following error. IVS13+21C>G the old base at 17581550 is NOT g! It is c.

IVS13-42G>A

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
Unprocessed due to the following error. IVS13-42G>A the old base at 17578217 is NOT c! It is a.

IVS13-45A>G

Instruction: t17578220c ; 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
Sites found for acceptor
Decreased	17578218	-42	17578176	2.2	0.5	-1.7	-3.3	29.8	-1.5	-1.8	-0.4
Decreased	17578200	-24	17578176	8.9	8.6	-0.3	-1.2	81.8	0.0	-0.1	-0.1
No Change	17578181	-5	17578176	8.2	8.2	0.0	1.0	100	-0.1	-0.1	0.0
No Change	17578180	-4	17578176	6.6	6.6	0.0	1.0	100	-0.5	-0.5	0.0
No Change	17578176	0	17578176	9.2	9.2	0.0	1.0	100	0.1	0.1	0.0
No Change	17578168	8	17578176	2.2	2.2	0.0	1.0	100	-1.5	-1.5	0.0
Decreased	17578219	-43	17578176	1.0	-7.2	-8.2	-2.0	NA	-1.7	-3.5	-1.8
Sites found for donor
No Change	17578179	-3	17578176	3.2	3.2	0.0	1.0	100	-1.5	-1.5	0.0

IVS13-108A>G

Instruction: t17578283c ; 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
Sites found for acceptor
No Change	17578298	-122	17578176	1.6	1.6	0.0	1.0	100	-1.6	-1.6	0.0
No Change	17578291	-115	17578176	1.6	1.6	0.0	1.0	100	-1.6	-1.6	0.0
No Change	17578289	-113	17578176	9.4	9.4	0.0	1.0	100	0.1	0.1	0.0
Decreased	17578278	-102	17578176	1.3	1.2	-0.2	-1.1	89.4	-1.6	-1.7	-0.0
Sites found for donor

+1188A>G

Instruction: t17578141c ; 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
Sites found for acceptor
No Change	17578168	8	17578176	2.2	2.2	0.0	1.0	100	-1.5	-1.5	0.0
Decreased	17578140	36	17578176	1.6	-6.5	-8.2	-3.1	NA	-1.6	-3.4	-1.8
Sites found for donor
No Change	17578179	-3	17578176	3.2	3.2	0.0	1.0	100	-1.5	-1.5	0.0
No Change	17578109	67	17578176	0.7	0.7	0.0	1.0	100	-2.2	-2.2	0.0
No Change	17578101	75	17578176	4.1	4.1	0.0	1.0	100	-1.2	-1.2	0.0

IVSA-34C>T

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
Unprocessed due to the following error. Information of Exon A is not found

IVSB+52C>T

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
Unprocessed due to the following error. Information of Exon B is not found

IVSB-34G>A

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
Unprocessed due to the following error. Information of Exon B is not found

IVSC+121T>A

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
Unprocessed due to the following error.Information of Exon C is not found.

IVSC-64C>A

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
Unprocessed due to the following error. Information of Exon C is not found.

IVSE-12T>C

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
Unprocessed due to the following error. Information of Exon E is not found

IVS16+12C>T

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
Unprocessed due to the following error. IVS16+12C>T the old base at 17562171 is NOT g! It is a.

IVS17-113A>G

Instruction: t17559085c ; 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
Sites found for acceptor
No Change	17559105	-132	17558973	1.7	1.7	0.0	1.0	100	-1.6	-1.6	0.0
No Change	17559103	-130	17558973	2.7	2.7	0.0	1.0	100	-1.4	-1.4	0.0
No Change	17559098	-125	17558973	1.5	1.5	0.0	1.0	100	-1.6	-1.6	0.0
No Change	17559096	-123	17558973	1.2	1.2	0.0	1.0	100	-1.7	-1.7	0.0
Increased	17559086	-113	17558973	3.6	4.6	1.0	1.9	193.9	-1.2	-0.9	0.2
Decreased	17559079	-106	17558973	1.8	1.8	-0.1	-1.0	95.7	-1.5	-1.6	-0.0
No Change	17559034	-61	17558973	0.9	0.9	0.0	1.0	100	-1.7	-1.7	0.0
increased	17559073	-100	17558973	-0.2	0.3	0.5	1.2	120.0	-2.0	-1.9	0.1
Sites found for donor
No Change	17559131	-158	17558973	5.8	5.8	0.0	1.0	100	-0.7	-0.7	0.0
No Change	17559072	-99	17558973	0.4	0.4	0.0	1.0	100	-2.3	-2.3	0.0

+1440C>T

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
Unprocessed due to the following error. +1440C>T the old base at 17558956 is NOT g! It is c.

+1557G>C

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
Unprocessed due to the following error. +1557G>C the old base at 17557491 is NOT c! It is g.

IVS19+12G>C

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
Unprocessed due to the following error. IVS19+12G>C the old base at 17557447 is NOT c! It is g.

+1737T>C

Instruction: a17554930g ; 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
Sites found for acceptor
Decreased	17554921	157	17555078	3.5	2.9	-0.6	-1.5	66.7	-1.2	-1.3	-0.1
No Change	17554890	188	17555078	5.5	5.5	0.0	1.0	100	-0.7	-0.7	0.0
Sites found for donor

+1877C>T

Instruction: g17554790a ; 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
Sites found for acceptor
Increased	17554776	-175	17554601	5.0	5.4	0.4	1.3	130.0	-0.8	-0.8	0.1
Increased	17554775	-174	17554601	2.1	2.3	0.2	1.2	116.1	-1.5	-1.4	0.0
Increased	17554770	-169	17554601	10.0	10.1	0.2	1.1	111.8	0.2	0.3	0.0
No Change	17554751	-150	17554601	5.5	5.5	0.0	1.0	100	-0.7	-0.7	0.0
Sites found for donor
No Change	17554840	-239	17554601	3.0	3.0	0.0	1.0	100	-1.5	-1.5	0.0
No Change	17554770	-169	17554601	3.2	3.2	0.0	1.0	100	-1.5	-1.5	0.0

+1902A>G

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
Unprocessed due to the following error. +1902A>G the old base at 17554765 is NOT t! It is a.