Table 1.

RBM10 mutations

Phenotype	Mutation effect	Mutation	Exon	Protein	Reference
NSCLC	Missense		2	E4K	Imielinski et al. [10]
NSCLC	Missense		2	R6H	Imielinski et al. [10]
TARP syndrome	Frameshift	c.159delC	3	p.Lys54SerfsX80	Gripp et al. [7]
NSCLC	Nonsense		3	E67	Imielinski et al. [10]
TARP syndrome		c.448C>T	4	p.Gln150X	Johnston et al. [8]
NSCLC	Nonsense		5	R157fs	Imielinski et al. [10]
NSCLC	Nonsense		7	Y206	Imielinski et al. [10]
NSCLC	Nonsense		8	R230	Imielinski et al. [10]
TARP syndrome		c.724+2T>C	8		Johnston et al. [8]
NSCLC	Missense		10	1316F	Imielinski et al. [10]
TARP syndrome	Nonsense	c.1235G>A	12	p.Trp412X	Johnston et al. [6]
NSCLC	Missense		16	Y580F	Imielinski et al. [10]
NSCLC	Splice site		17	Y596	Imielinski et al. [10]
Pancreatic neoplasm	Frameshift	c.1817-1818insA	17	p.E606EfsX37	Furukawa et al. [9]
TARP syndrome	Frameshift	c.1893-1894insA	17	p.Pro632ThrfsX41	Johnston et al. [6]
TARP syndrome	Deletion	aa651-889	18-23		Wang et al. [3]
NSCLC	Missense		18	R685L	Imielnski et al. [10]
TARP syndrome		c.2176C>T	20	p.Arg726X	Johnston et al. [8]
NSCLC	Nonsense		21	E810	Imielinski et al. [10]
NSCLC	Splice site		22	V846	Imielinski et al. [10]