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
Table 3: Information content of splice mutations at acceptor sites.