Regions | Positions of single-nucleotide polymorphisms | Distance from GT splice site | |
---|---|---|---|
Full-spliced cDNA | Intron-retained cDNA | ||
Exon 1(c.1–198) | c.25 T/G(K) | C | 173 |
c.26 T/C(Y) | T | 172 | |
c.44 T/C(Y) | T | 154 | |
c.84 T/C(Y) | C | 114 | |
c.108G/A(R) | G | 90 | |
c.147C/T(Y) | C | 51 | |
c.176A | c. 176 T/A(W) | 22 | |
c.183A/C(M) | C | 15 | |
c.186G/A (R) | c. 186 A/G(R) | 12 | |
c.191C | c. 191 T/C(Y) | 7 | |
Retained intron 1 | – | c.198+21 C/T(Y) | 18 |
Exon 2 (c.199–306) | c276C/T(Y) | c.276 T/C(Y) | 30 |
c277A/G(R) | c.277 G/A(R) | 29 | |
c284G/A(R) | c. 284A/G(R)4 | 22 | |
Retained intron 2 | – | c.306+32 T/C(Y) | 29 |
– | c.306+60 A/T(W) | 57 | |
Exon 3 (307-378) | c.315G/ A (R) | c.315 G/A(R) | 63 |
c.377A | c.377 C/A(M) | 1 | |
Retained intron 3 | – | c.378+94 G/C(S) | 91 |
– | c.378+249 T/A(W) | 246 |