COL1A1 NM_000088.3:c.2613delT interpretation erro
Created by: mutalyzerbot
Original ticket: https://humgenprojects.lumc.nl/trac/mutalyzer/ticket/30 Original date: 2011/02/17 Original reporter: pbyers AND u DOT washington DOT edu
Mutalyzer read this as if it were a deletion of the downstream GG dinucleotide rather than the single T deletion. The T is the last nt of an exon and the exons in this region are all cassettes with the same reading frame and all in the +1 frame.