Table 3. Polymorphisms detected in the study.
| Nucleotide change | Amino acid change | Status | Conser- vation | Computational prediction |
Allele frequency in cases | Reported or SNP ID | ||
|---|---|---|---|---|---|---|---|---|
| Blosum62 | PolyPhen or Splice site | SIFT | ||||||
| c.43C>A |
p.Q15K |
Hetero |
No |
5>1 |
B |
T |
1/386 |
rs75414918 |
| c.321G>A |
p.(S107=) |
Hetero |
NA |
- |
NC |
- |
1/386 |
rs117888848 |
| c.473G>A |
p.S158N |
Hetero/homo |
No |
4>1 |
B |
T |
125/386 |
rs7624750 |
| c.557–19T>C |
- |
Hetero/homo |
NA |
- |
NC |
- |
109/386 |
rs3772393 |
| c.575C>T |
p.A192V |
Hetero |
Yes |
4>0 |
B |
T |
9/386 |
rs34307082 |
| c.624+13G>C |
- |
Hetero |
NA |
- |
NC |
- |
3/386 |
this study |
| c.625–4T>A |
- |
Hetero |
NA |
- |
NC |
- |
1/386 |
this study |
| c.870+4T>C |
- |
Hetero/homo |
NA |
- |
NC |
- |
12/386 |
Liu Y et al. [41,42] |
| c.870+32T>C |
- |
Hetero/homo |
NA |
- |
NC |
- |
105/386 |
Liu Y et al. [41,42] |
| c.871–9T>A |
- |
Hetero |
NA |
- |
NC |
- |
1/386 |
this study |
| c.1177A>C |
p.(R393=) |
Hetero |
NA |
- |
NC |
- |
1/386 |
rs149752576 |
| c.1608A>C |
p.(A536=) |
Hetero |
NA |
- |
NC |
- |
11/386 |
rs78767626 |
| c.1770+16T>G |
- |
Hetero/homo |
NA |
- |
NC |
- |
27/386 |
rs9831772 |
| c.1884A>G |
p.(V628=) |
Hetero |
NA |
- |
NC |
- |
9/386 |
rs73069703 |
| c.1923G>A |
p.(A641=) |
Hetero |
NA |
- |
NC |
- |
3/386 |
rs138114609 |
| c.2109T>C |
p.(A703=) |
Hetero/homo |
NA |
- |
NC |
- |
121/386 |
rs9851685 |
| c.2276–128_2276–127insT |
- |
Hetero |
NA |
- |
NC |
- |
1/386 |
this study |
| c.2808G>A |
p.(A936=) |
Hetero/homo |
NA |
- |
NC |
- |
35/386 |
rs117475774 |
| c.2796C>T |
p.(R932=) |
Hetero |
NA |
- |
NC |
- |
8/386 |
rs35540805 |
| c.2819–4A>G |
- |
Hetero |
NA |
- |
NC |
- |
2/386 |
rs184273607 |
| c.2883+2T>C | - | Hetero | NA | - | NC | - | 1/386 | this study |
Abbreviations: Hetero, Heterozygous; Homo, Homozygous; B, benign; NC, not changed; T, tolerated; NA, not analyzed.