Table 1.

Rare coding variants identified in FTLD-TDP patients in 21 known neurodegenerative disease genes.

Gene name	Case ID	cDNA change	Protein change	Domain	CADD_PHRED	SNP id	ExAC N (frequency)	Reference
OPTN	case A	NM_001008211.1: c.703C>T	p.Gln235*	Coil-Coiled domain	39		New	Cady et al., 2015 [8]
TBK1	case B	NM_013254.3: c.349C>T	p.Arg117*	Kinase domain	37		1 (0.000008259)	Novel
TBK1	case C	NM_013254.3: c.2086G>A	p.Glu696Lys		31		2 (0.00001654)	Freischmidt et al., 2015 [18]
TBK1	case D	NM_013254.3: c.916C>A	p.Leu306Ile	Ubiquitin-like domain	28.4	rs201970436	36 (0.00001654)	Novel
TBK1	case E	NM_013254.3: c.1201A>G	p.Lys401Glu		22.9		1 (0.00001227)	Novel
LRRK2	case F	NM_198578.3: c.776C>A	p.Ala259Glu	ARM	18.11	rs199557665	New	Novel
PFN1	case G	NM_005022.3: c.350_351delinsGT	p.Glu117Gly		17.52	rs140547520 rs151313170	50 (0.0004120)	Wu et al., 2012 – van Blitterswijk et al., 2013 [61,53]
GRN	case H	NM_002087.2: c.26C>A	p.Ala9Asp	Signal peptide	17.52	rs63751243	New	Mukheerje et al., 2006 [40]
CSF1R	case I	NM_005211.3: c.533G>A	p.Ser178Asn	Ig-like C2-type 2	16.05		New	Novel
LRRK2	case J	NM_198578.3: c.3087G>T	p.Gln1029His	Leucine-rich repeat	15.23		New	Novel
FUS	case K	NM_004960.3: c.537A>C	p.Gln179His	RGG1	13.05		New	Huey et al., 2012 [25]
GRN	case L	NM_002087.2: c.709-2A>G	p.Ala237Trpfs*4	Granulin domain B	12.51	rs63750548	New	Leverenz et al., 2007 [29]
GRN	case M	NM_002087.2: c.1145del	p.Thr382Serfs*30	Granulin domain C	0.103	rs63750805	New	Baker et al., 2006 [4]

CADD_PHRED: Combined Annotation Dependent Depletion scaled score, ARM: Armadillo repeat domain