As per the question I suspect splice mutations are less well picked up by things like VEP. Does anyone have any good resources so you can assess the pathogenicity of possible splice site variants?
Hi
Actually there are several websites that you can use with different levels of predictability and level of confidence but I like the most these two:
http://umd-predictor.eu/single_results.php
http://genetics.bwh.harvard.edu/pph2/
Best,
Florian
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