TABLE 2.
Analysis of the domain and allele frequency of the novel and reported mutations.
| Mutation site | Domain | Mutation type | LOF | East Asian allele frequency (gnomAD) | Total allele frequency (gnomAD) | References |
|---|---|---|---|---|---|---|
| c.1733T>C (p.M578T) | Missense | 0.0002518 | 0.00001777 | Yan et al. (2020) | ||
| Yuan et al. (2020b) | ||||||
| c.1727T>C (p.L576P) | Missense | NA | NA | Yuan et al. (2020b) | ||
| c.1658 G>C (p. R553P) | C2 | Missense | NA | NA | Yuan et al. (2020a) | |
| c.1607C>T (p.W536X) | C2 | Stop gain | √ | NA | NA | Novel |
| c.1466T>G (p.I489S) | C2 | Missense | NA | NA | Novel | |
| c.1465A>T (p.I489F) | C2 | Missense | 0 | 0.000004031 | Escoffier et al. (2016) | |
| Total in C2 domain | 0 | 0.000004031 | ||||
| c.1358G>A (p.G453D) | Y | Missense | 0 | 0.000003985 | Zhao et al. (2023) | |
| c.1344A>T (p.K448N) | Y | Missense | NA | NA | Yan et al. (2020) | |
| c.1274A>G (p.N425S) | Y | Missense | NA | NA | Zhao et al. (2023) | |
| c.1259C>T (p.P420L) | Y | Missense | NA | NA | Yuan et al. (2020b) | |
| Mu et al. (2020) | ||||||
| c.1234delA (p.Arg412fs) | Y | Frameshift deletion | √ | 0.0001538 | 0.00001094 | Mu et al. (2020) |
| c.1208_1213del (p.403_404del) | Y | In frame deletion | NA | NA | Novel | |
| c. p.H398P | Y | Missense | 0 | 0.000007356 | Kashir et al. (2012) | |
| c.1174+3A>C | Splicing | NA | NA | Zhao et al. (2023) | ||
| c.1151C>T (p.A384V) | Y | Missense | 0.00005441 | 0.000003986 | Yan et al. (2020) | |
| c.1129_1131delAAT (p.N377del) | Y | In frame deletion | 0.0005517 | 0.000039 | Yan et al. (2020) | |
| c.1048T>C (p.S350P) | Y | Missense | NA | NA | Kashir et al. (2012) | |
| Total in Y domain | 0.00075991 | 0.000065267 | ||||
| c.972_973delAG (p.T324fs) | XY linker | Frameshift deletion | √ | NA | NA | Mu et al. (2020) |
| c.830T>C (p.L277P) | X | Missense | NA | NA | Yan et al. (2020) | |
| c.736C>T (p.L246F) | X | Missense | NA | NA | Kashir et al. (2012) | |
| c.698A>T (p.H233L) | X | Missense | 0 | 0.0006864 | Kashir et al. (2012) | |
| c.590G>A (p.R197H) | X | Missense | 0 | 0.00001193 | Mu et al. (2020) | |
| c.588C>A (p.C196X) | X | Stop gain | √ | 0.0002177 | 0.00001591 | Yan et al. (2020) |
| Mu et al. (2020) | ||||||
| Kashir et al. (2012) | ||||||
| Yuan et al. (2020a) | ||||||
| c.570+1G>T (p.V189Cfs*12) | X | Splicing | √ | NA | NA | Yan et al. (2020) |
| Total in X domain | 0.0002177 | 0.00071424 | ||||
| c.136-1G>C | Splicing | NA | NA | Zhao et al. (2023) | ||
| c.2T>C (p.M1T) | Start loss | 0 | 0.000003981 | Peng et al. (2023) | ||
| Total | 0.00122941 | 0.00080532 |
NA, not applicable.
Bold sections are the total of the statistics above.