OD | Loci | AL | Coding | AAV | TMD | Frequency | |||
---|---|---|---|---|---|---|---|---|---|
No. of all CDSs (n = 272) No. (F, %) | 2020 (n = 102) No. (F, %) | 2021 (n = 92) No. (F, %) | 2022 (n = 78) No. (F, %) | ||||||
1 | c.7 | A>G | ATC/GTC | I3V | Outside | 12 (4.4) | 10 (3.7) | 1 (0.4) | 1 (0.4) |
2 | c.37 | C>T | CCC/TCC | P13S | Outside | 2 (0.7) | 0 | 1 (0.4) | 1 (0.4) |
3 | c.772 | T>A | TGC/AGC | C258S | 7 | 3 (1.1) | 1 (0.4) | 2 (0.7) | 0 |
4 | c.936 | C>T | TGC/TGT | C312C | Inside | 2 (0.7) | 1 (0.4) | 1 (0.4) | 0 |
5 | c.987 | C>T | GAC/GAT | D329D | 8 | 3 (1.1) | 1 (0.4) | 0 | 2 (0.7) |
6 | c.1032 | C>G | ACC/ACG | T344T | 9 | 4 (1.5) | 3 (1.1) | 1 (0.4) | 0 |
7 | c.1164 | C>T | TCC/TCT | S388S | 10 | 27 (9.9) | 17 (6.3) | 3 (1.1) | 7 (2.6) |