| Gene ID |
Mutation allele |
Cryptic (Alternative) Splice Site |
Phenotype |
| |
#, Coordinate (Ri(n) /Ri(m)) |
Coordinate (Ri(m)) |
|
| CASQ2 |
1, IVS 4, D:G→A, 1 (8.4/-4.1) [14] |
|
CPVT |
| CAV3 |
2, IVS 1, D: T→C, 2 (8.1/0.6) [25] |
|
HCM |
| DES |
3, IVS 3, D:A→G, 3 (9.5/7.0) [26] |
|
DCM |
| DMD |
4, IVS 1, D:G→A, 5 (9.5/5.9) [27] |
|
DCM |
| |
5, IVS 1, D:G→T, 1 (9.5/1.6) [28] |
|
DCM |
| |
6, IVS 1, D:T→C, 6 (9.5/8.0) [29] |
|
DCM |
| |
7, IVS 5, D:G→T, 1 (11.1/3.3) [30] |
|
DCM |
| DSC2 |
8, IVS 15, D:G→A, 5 (7.6 /4.1) [31] |
|
ARVD |
| DSG2 |
9, IVS 5, D:T→C, 2 (7.5/0.0) [31] |
|
ARVD |
| |
10, IVS 6, D:G→A, 1 (11.0/-1.8) [32] |
|
ARVD |
| DSP |
11, IVS 2, D:G→A, 5 (5.4/1.9) [33] |
|
ARVD |
| |
12, IVS 15, D:G→C, 1 (10.0/0.2) [34] |
|
DCM |
| LMNA |
13, IVS 5, D:G→T, 1 (6.0/-1.8) [35] |
|
DCM |
| |
14, IVS 6, D:G→A, 1 (10.6/-2.2) [36] |
|
DCM |
| |
15, IVS 7, D:G→A, 1 (7.1/-5.7) [37] |
|
DCM |
| MYBPC3 |
16, IVS 4, D:G→C, 5 (8.8/4.9) [38] |
|
HCM |
| |
17, IVS 6, D:G→A, 5 (9.3/5.8) [39] |
|
HCM |
| |
18, IVS 7, D:G→A, 1 (8.7/-4.1) [40] |
|
HCM |
| |
19, IVS 7, D:G→A, 5 (8.7/5.2) [41] |
|
HCM |
| |
20, IVS 7, D:G→T, 1 (8.7/0.9) [42] |
|
HCM |
| |
21, IVS 12, D:G→A, -1 (6.6/-9.3) [43] |
|
HCM |
| |
22, IVS 12, D:G→A, 1 (6.6/-26.1) [44] |
IVS 12, D, 4 (3.5) |
HCM |
| |
23, IVS 12, D:G→C, 1 (6.6/-23.1) [45] |
IVS 12, D, 2 (2.6) |
HCM |
| |
24, IVS 13, D:G→C, 1 (4.3/-5.5) [45] |
|
HCM |
| |
25, IVS 13, D:G→T, 1 (4.3/-3.5) [46] |
|
HCM |
| |
26, IVS 15, D:G→A, 1 (8.0/-4.8) [47] |
|
HCM |
| |
27, IVS 17, D:A→T, 4 (8.3/5.2) [13] |
|
HCM |
| |
28, IVS 17, D:G→A, 1 (8.3/-4.5) [48] |
|
HCM |
| |
29, IVS 17, D:G→C, 1 (8.3/-1.5) [49] |
|
HCM |
| |
30, IVS 21, D:G→A, 1 (4.0/-9.8) [50] |
|
HCM |
| |
31, IVS 21, D:T→G, 2 (4.0/-4.2) [51] |
|
HCM |
| |
32, IVS 21, D:T→G, 2 (4.0/-4.2) [51] |
|
HCM |
| |
33, IVS 23, D:G→A, 1 (7.3/-5.5) [41] |
|
HCM |
| |
34, IVS 23, D:G→T, 1 (7.3/-0.5) [40] |
|
HCM |
| |
35, IVS 27, D:G→A, 1 (4.9/-9.0) [52] |
|
HCM |
| |
36, IVS 29, D:G→A, 1 (5.9/-6.9) [53] |
|
DCM |
| |
37, IVS 29, D:G→A, 5 (5.9/2.4) [42] |
|
HCM |
| |
38, IVS 30, D:T→C, 2 (9.4/1.0) [46] |
|
HCM |
| |
39, IVS 30, D:T→G, 2 (9.4/0.2) [54] |
|
HCM |
| |
40, IVS 30, D:G→C, 5 (9.4/4.5) [55] |
|
HCM |
| |
41, IVS 31, D:G→A, 1 (3.6/-9.2) [56] |
|
HCM |
| |
42, IVS 31, D:G→T, 1 (3.6/-4.2) [57] |
|
DCM |
| |
43, IVS 32, D:G→A, 1 (9.9/-4.0) [40] |
|
HCM |
| |
44, IVS 32, D:T→A, 2 (9.9/1.0) [58] |
|
HCM |
| MYH7 |
45, IVS 8, D:G→A, 1 (5.0/-7.8) [59] |
|
HCM |
| |
46, IVS 8, D:G→C, 3 (5.0/0.6) [59] |
|
HCM |
| PKP2 |
47, IVS 1, D:G→A, 1 (10.5/-2.3) [31] |
|
ARVD |
| |
48, IVS 4, D:G→A, 1 (10.3/-2.5) [31] |
|
ARVD |
| |
49, IVS 5, D:G→A, 1 (4.8/-9.0) [60] |
|
ARVD |
| |
50, IVS 5, D:G→C, 1 (4.8/-5.0) [31] |
|
ARVD |
| |
51, IVS 7, D:G→A, 1 (9.4/-4.4) [31] |
|
ARVD |
| |
52, IVS 10, D:G→C, 1 (9.4/-1.4) [61] |
|
ARVD |
| |
53, IVS 12, D:G→T, 1 (11.0/3.2) [61] |
|
ARVD |
| |
54, IVS 12, D:C→T, -6 (11.0/11.0) [61] |
|
ARVD |
| |
55, IVS 12, D:G→A, 1 (11.0/-1.8 ) [62] |
|
ARVD |
| TNNT2 |
57, IVS 16, D:G→A, 1 [63] |
|
HCM |
The coordinate is the numerical location of the base in Genbank sequence. It is illustrated as the relative position in the numbered IVS (Intervening sequence) donor (D)
splice site. Positive integers indicate 3’ (downstream) location; negative integers indicate 5’ (upstream) location. Ri(n)--Ri value of natural splice sites; Ri(m)--Ri value of mutant
splice sites |
