| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| ccactggcccagGT |
| ccactggcccatGT |
| -34.1 % |
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Data for this mutation
| Analysis | Result | Date | Origin | PMID |
|---|---|---|---|---|
| p. | causal | 1/01/01 | [Tala and al., 2006] |
| Biological significance | Date | Comment |
|---|---|---|
| 5- Causal | 6/01/16 | NC |