Rare coding variants identified in ASMT.

a, Inheritance status only for cases;b, The possible functional impact of amino acid changes was predicted by the PolyPhen 2 program HumDiv model;c, Functional prediction performed by SIFT;d, Functional prediction performed by SIFT indel;e, Mutations found in database of Exome Variant Server;f, The observed allele counts for the listed alleles (delimited by/);g, The minor-allele frequency in percent listed in the order of European American (EA), African American(AA) and all populations (All) (delimited by/). N.A, data was not available.