Exon | Position | Amino acid change | Minor allele frequency (number) | dbSNP | NNSplice | Human Splicing Finder | |
---|---|---|---|---|---|---|---|
Score ratio of donor site (SNP versus normal) | Score ratio of acceptor site (SNP versus normal) | ||||||
Intron 19 | c.2283 + 103C > T | - | 0.1 (10) | rs17290371 | 0.48:0.53 | - | Creation of an intronic ESE site |
20 | c.2361G > A | Q787Q | 0.18 (9) | rs1050171 | 0:0.43 | - | Probably no impact on splicing |
20 | c.2457G > A | V819V | 0.04 (1) | rs56183713 | 0.53:0 | 0.89:0.65 | 1. Creation of an exonic ESS site |
2. Alteration of an exonic ESE site | |||||||
Intron 20 | c.2470-68C > A | - | 0.02 (1) | rs530416576 | - | - | Creation of an intronic ESE site |