OD | TMD | Loci | AL | Coding | AAV | No. of all CDSs(n = 624) | Frequency | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
2014 (n = 283) | 2020 (n = 140) | 2021 (n = 119) | 2022 (n = 82) | ||||||||
IP (n = 271) | ID (n = 12) | IP (n = 140) | IP (n = 119) | IP (n = 82) | |||||||
1 | Inside | c.23c | C>T | CCC/CTC | P8L | 64 (10.3%) | 5 (1.8%) | 0 | 19 (13.6%) | 25 (21.0%) | 15 (18.3%) |
2 | Inside | c.96a | G>C | GGG/GGC | G32G | 2 (0.3%) | 2 (0.7%) | 0 | 0 | 0 | 0 |
3 | Inside | c.132b | G>A | AAG/AAA | K44K | 241 (38.6%) | 98 (36.2%) | 4 (33.3%) | 53 (37.6%) | 52 (43.7%) | 34 (41.5%) |
4 | 3 | c.516 | C>T | GGC/GGT | G172G | 3 (0.5%) | 2 (0.7%) | 1 (8.3%) | 0 | 0 | 0 |
5 | Outside | c.930c | G>A | TTG/TTA | L310L | 63 (10.1%) | 2 (0.7%) | 0 | 19 (13.6%) | 25 (21.0%) | 17 (20.7%) |
6 | Outside | c.936 | C>T | AAC/AAT | N312N | 5 (0.8%) | 5 (1.8%) | 0 | 0 | 0 | 0 |
7 | Inside | c.1226 | C>T | ACG/ATG | T409M | 31 (5.0%) | 11 (4.6%) | 1 (8.3%) | 8 (5.7%) | 5 (4.2%) | 6 (7.3%) |
8 | Inside | c.1477c,b | T>C | TTA/CTA | L493L | 26 (4.7%) | 25 (9.2%) | 1 (8.3%) | 0 | 0 | 0 |
9 | Inside | c.1539cb | T>A | AGT/AGA | S513R | 118 (18.9%) | 69 (25.5%) | 2 (16.7%) | 27 (19.3%) | 12 (10.1%) | 8 (9.8%) |
10 | Inside | c.1559b | G>A | GGT/GAT | G520D | 32 (5.1%) | 21 (7.7%) | 1 (8.3%) | 7 (5.0%) | 2 (1.7%) | 1 (1.2%) |
11 | Inside | c.1587b | A>G | ACA/ACG | T529T | 569 (91.2%) | 227 (83.4%) | 7 (58.3%) | 136 (97.1%) | 117 (98.3%) | 82 (100%) |
12 | Inside | c.2092b | G>A | GGC/AGC | G698S | 534 (85.6%) | 256 (94.5%) | 11 (91.7%) | 120 (85.7%) | 88 (73.9%) | 59 (72.0%) |
13 | 7 | c.2499 | G>T | ATG/ATT | M833I | 9 (1.4%) | 2 (0.7%) | 0 | 3 (2.1%) | 3 (2.5%) | 1 (1.2%) |
14 | 7 | c.2533c | C>T | CTC/TTC | L845F | 106 (17.0%) | 54 (19.2%) | 1 (8.3%) | 12 (8.6%) | 16 (13.4%) | 23 (28.0%) |
15 | Outside | c.2582c | C>A | GCG/GAG | A861E | 84 (13.5%) | 37 (13.7%) | 3 (25%) | 23 (16.4%) | 19 (16.0%) | 2 (2.4%) |
16 | Inside | c.2722 | A>C | ATG/CTG | M908L | 624 (100%) | 271 (100%) | 12 (100%) | 140 (100%) | 119 (100%) | 82 (100%) |
17 | 9 | c.2873 | C>T | ACG/ATG | T958M | 624 (100%) | 271 (100%) | 12 (100%) | 140 (100%) | 119 (100%) | 82 (100%) |
18 | 10 | c.2927 | A>T | TAC/TTC | Y976F | 7 (1.1%) | 7 (2.6%) | 0 | 0 | 0 | 0 |
19 | Inside | c.2990 | A>G | AAG/AGG | K997R | 4 (0.6%) | 3 (1.1%) | 1 (8.3%) | 0 | 0 | 0 |
20 | 11 | c.3201a | C>T | CTC/CTT | L1067L | 2 (0.3%) | 2 (0.7%) | 0 | 0 | 0 | 0 |
21 | 11 | c.3210a | C>T | TTC/TTT | F1070F | 3 (0.5%) | 3 (1.1%) | 0 | 0 | 0 | 0 |
22 | 11 | c.3226c,b | T>C | TTT/CTT | F1076L | 472 (75.6%) | 168 (62.0%) | 8 (66.7%) | 113 (80.7%) | 110 (92.4%) | 73 (89.0%) |
23 | 12 | c.3358 | C>T | CTA/TTA | L1120L | 8 (1.3%) | 7 (2.6%) | 0 | 0 | 1 (0.8%) | 0 |
24 | Inside | c.3634a | C>T | CTG/TTG | L1212L | 7 (1.1%) | 7 (2.6%) | 0 | 0 | 0 | 0 |
25 | Inside | c.3699a | G>A | AGA/AAA | E1233E | 4 (0.6%) | 4 (1.5%) | 0 | 0 | 0 | 0 |
26 | Inside | c.3774a | C>A | TCC/TCA | S1258S | 2 (0.3%) | 2 (0.7%) | 0 | 0 | 0 | 0 |
27 | Inside | c.3776a | C>T | TCC/TTC | S1259F | 2 (0.3%) | 2 (0.7%) | 0 | 0 | 0 | 0 |
28 | Inside | c.4044 | C>T | ACC/ACT | I1348I | 24 (3.8%) | 12 (4.4%) | 2 (16.7%) | 7 (5.0%) | 2 (1.7%) | 1 (1.2%) |
29 | Inside | c.4074b | C>T | TCC/TCT | S1358S | 68 (10.9%) | 27 (1.0%) | 3 (25%) | 21 (15.0%) | 7 (5.9%) | 10 (12.2%) |
30 | Inside | c.4179c,b | G>C | AAG/AAC | K1393N | 112 (17.9%) | 68 (25.15) | 3 (25%) | 14 (10.0%) | 14 (11.8%) | 13 (15.6%) |
31 | Inside | c.4188 | G>A | GAG/GAA | E1396E | 7 (1.1%) | 7 (2.6%) | 0 | 0 | 0 | 0 |
32 | Inside | c.4292a | A>G | AAC/AGC | N1431S | 7 (1.1%) | 7 (2.6%) | 0 | 0 | 0 | 0 |
33 | Inside | c.4349 | C>T | TCG/TTG | S1450L | 96 (15.4%) | 48 (17.7%) | 2 (16.7%) | 23 (16.4%) | 16 (13.4%) | 7 (8.5%) |
34 | – | Loci with only 1 mutation (continued in Table 4) | 19 | 15 | 0 | 0 | 3 | 1 |