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. 2022 Jan 12;26(4):1245–1252. doi: 10.1111/jcmm.17180

TABLE 1.

In silico analysis of this novel SYCE1 variant

Mutation Amino acid change Mutation Taster Variation viewer CO‐ESP ExAC (total) ExAC East Asian 1000 G MAF
c.689_690del p.F230fs Disease causing (0.999) no report 0 0 0 0