| Gene ID |
Mutation allele |
Cryptic (Alternative) splice site |
Phenotype |
| |
#, Coordinate (Ri(n) /Ri(m)) |
Coordinate (Ri) |
|
| ABCC9 |
1, IVS 13, A:A→C,76 (4.9/4.9) [64] |
|
DCM |
| COX15 |
2, IVS 3, A: C→G, -3 (9.9/4.0), -5 (4.3/4.8) [65] |
IVS 3, A, -4 (4.8) |
HCM |
| DES |
3, IVS 2, A:G→A, -1 (12.0/4.4) [66] |
IVS 2, A, 1 (5.9) |
DCM |
| DNAJC19 |
4, IVS 3, A:G→C, 3 (11.6/4.3) [67] |
|
DCM |
| DSC2 |
5, IVS 5, A:A→G, -2 (14.2/6.0), -3(6.9 /7.8) [68] |
IVS 5, A, -3 (3.8) |
ARVD |
| DSG2 |
6, IVS 12, A:A→G, -2 (6.2/-2.0) [69] |
|
ARVD |
| DSP |
7, IVS 3, A:G→A, -1 (12.4/4.9) [70] |
IVS 3, A, 1 (4.3) |
ARVD |
| LMNA |
8, IVS 1, A:G→T, -1 (12.4/3.6), 3 (5.5/5.4) [71] |
|
DCM |
| |
9, IVS 3, A:A→G, -10 (11.2/11.6) [72] |
|
DCM |
| MYBPC3 |
10, IVS 1, A:A→G, -2 (5.8/-2.4) [73] |
|
HCM |
| |
11, IVS 5, A:A→C, -2 (6.4/-1.1) [74] |
|
HCM |
| |
12, IVS 5, A:G→A, -1 (6.4/-1.2) [45] |
|
HCM |
| |
13, IVS 8, A:C→A, -20 (4.3/3.7) [75] |
|
HCM |
| |
14, IVS 9, A:G→A, -36 (8.3/14.1), -35 (5.9/2.5) [76] |
|
HCM |
| |
15, IVS 9, A:G→C, -1 (2.5/5.4) [76] |
|
HCM |
| |
16, IVS 11, A:A→G, -2 (-1.3/-9.5) [40] |
|
HCM |
| |
17, IVS 11, A:G→A, -9 (-1.3/-9.5) [77] |
|
HCM |
| |
18, IVS 13, A:A→G, -2 (8.3 /8.3), -1 (D5.9/D5.9) [78] |
|
HCM |
| |
19, IVS 13, A:G→A, -19 (8.3/8.3), -1 (D5.9/D5.9) [46] |
|
HCM |
| |
20, IVS 14, A:G→A, -13 (8.3/7.0) [74] |
|
HCM |
| |
21, IVS 15, A:G→A, -1 (5.5/-2.1) [79] |
|
HCM |
| |
22, IVS 16, A:G→A, -6 (1.6/1.8) [75] |
IVS 16, A, -5 (4.3) |
HCM |
| |
23, IVS 20, A:A→G, -2 (9.5/9.5) [80] |
|
HCM |
| |
24, IVS 22, A:C→T, -1 (9.1/7.8) [45] |
|
HCM |
| |
25, IVS 23, A:A→G, -26 (D5.1/D6.3), -1 (A5.1/A4.5) [41] |
|
HCM |
| |
26, IVS 23, A:A→G, -2 (5.1/-3.1) [73] |
|
HCM |
| |
27, IVS 24, A:A→G, -2 (3.7/-4.5) [44] |
|
HCM |
| |
28, IVS 26, A:C→G, -3 (12.6/3.0) [81] |
IVS 26, A, -1 (6.7) |
HCM |
| MYH7 |
29, IVS 32, A:C→T, -26 (10.4/10.4) [82] |
|
HCM |
| MYL3 |
30, IVS 4, A:A→G, -2 (8.6/2.8), 1(11.1/8.9) [83] |
IVS 4, A, -1 (0.5) |
HCM |
| MYL2 |
31, IVS 5, A:A→G, -2 (14.1/5.9) [78] |
|
HCM |
| |
32, IVS 6, A:G→C, -1 (7.2/-0.1) [84] |
|
HCM |
| PKP2 |
33, IVS 4, A:A→G, -2 (11.6/3.4), 1 (3.1/2.7) [85] |
|
ARVD |
| |
34, IVS 7, A:G→C, -1 (12.7/5.4) [31] |
IVS 7, A, 5 (4.2) |
ARVD |
| |
35, IVS 10, A:A→T, -2 (11.9/4.5), -4 (3.0/3.5)[86] |
IVS 10, A, 5 (3.6) |
ARVD |
| |
36, IVS 10, A:G→C, -1 (11.9/4.6), -4 (3.0/ 3.0) [61] |
IVS 10, A, 3 (3.4) |
ARVD |
| |
37, IVS 12, A:G→C,1 (7.6/0.3), -3 (3.7/3.3) [87] |
|
ARVD |
The coordinate is illustrated as the relative position in the numbered IVS (Intervening sequence) acceptor (A) 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 |
