I have been using the 2.0 beta 8 version to check COL1A1 sequences. When I entered NM_000088.3: c.2450dupC it gives me p.Gly818Leufs*291 but it should be p.Gly181Trpfs*3. Can you check
Created by: mutalyzerbot
Original ticket: https://humgenprojects.lumc.nl/trac/mutalyzer/ticket/54 Original date: 2011/07/10 Original reporter: pbyers AND u DOT washington DOT edu