Table 1.

VUS in RPS19 identified in DBA patients selected for complementation assay

DNA change	Protein change	Mutation taster	Mutation assessor	Polyphen‐2	Provean	SIFT	Condel	Affected patients
c.1A>G	p.Met1?	Disease causing	na	Probably damaging	Neutral	Damaging	Probably damaging	5
c.62T>C	p.Phe21Ser	Disease causing	Medium	Probably damaging	Deleterious	Tolerated	Probably damaging	1
c.187_189insCAC	p.His63dup	Disease causing	na	na	Deleterious	na	na	1
c.281G>T	p.Arg94Leu	Polymorphism	Medium	Benign	Deleterious	Tolerated	Probably damaging	1
c.305G>C	p.Arg102Pro	Disease causing	Medium	Benign	Deleterious	Damaging	Probably damaging	1
c.353A>G	p.Asp118Gly	Disease causing	Low	Benign	Deleterious	Tolerated	Probably damaging	1
c.406G>T	p.Gly136*	Disease causing	na	na	na	na	na	1
c.338_340delTGG	p.Val113del	Disease causing	na	na	Deleterious	na	na	1

na, not available. RefSeq: NM_001022.3, NP_001013.1.

Numeric output data are shown in Supp. Table S1. Websites and software versions are reported in the Materials and Methods section.