HGMD, CardiffThe Human Gene Mutation Database
at the Institute of Medical Genetics in Cardiff
Copyright © Cardiff University 2011. All rights reserved
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Statistics for Splicing Mutations

Invariant G at donor site +1Number of entries
G > T738
G > A1663
G > C480

Invariant T at donor site +2Number of entries
T > G253
T > A190
T > C466

Invariant A at acceptor site -2Number of entries
A > G982
A > T197
A > C262

Invariant G at acceptor site -1Number of entries
G > T311
G > A859
G > C479


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