TABLE 2.

Pathogenic (P) and likely pathogenic (LP) variants identified in 22 patients.

Patient ID	Gene name	SCA type	Ref seq number	cDNA: protein position	Class	References
1	CACNA1A	SCA6	NM_023035.2	c.835C>T: p.R279C	P	Maksemous et al. (2016)
2	CACNA1A	SCA6	NM_023035.2	c.1748G>A: p.R583Q	P	Battistini et al. (1999)
3	CACNA1A	SCA6	NM_023035.2	c.3426delG: p.T1143Pfs*47	P	—
4	CACNA1A	SCA6	NM_023035.2	c.4997G>A: p.R1666H	LP	Tantsis et al. (2016)
5	TTBK2	SCA11	NM_173500.3	c.3466C>T: p.R1156*	LP	—
6, 7	KCNC3	SCA13	NM_004977.2	c.1771A>G: p.S591G	LP	Duarri et al. (2015)
8	KCNC3	SCA13	NM_004977.2	c.1268G>A: p.R423H	P	Figueroa et al. (2010)
9	KCNC3	SCA13	NM_004977.2	c.1259G>A: p.R420H	P	Waters et al. (2006)
10	PRKCG	SCA14	NM_001316329.1	c.107A>G: p.H36R	P	Németh et al. (2013)
11	KCND3	SCA19/22	NM_004980.4	c.1054A>C: p.T352P	P	Duarri et al. (2012)
12	KCND3	SCA19/22	NM_004980.4	c.1169G>A: p.S390N	P	Duarri et al. (2012)
13	KCND3	SCA19/22	NM_004980.4	c.1291C>T: p.R431C	LP	Choi et al. (2017)
14	PDYN	SCA23	NM_001190892.1	c.632T>C: p.L211S	P	Bakalkin et al. (2010)
15	AFG3L2	SCA28	NM_006796.2	c.1861C>G: p.L621V	P	Nibbeling et al. (2017)
16	TGM6	SCA35	NM_198994.2	c.691C>T: p.R231*	P	—
17	TGM6	SCA35	NM_198994.2	c.1429_1430insTCTCT: p.G477Vfs*28	P	—
18	MME	SCA43	NM_000902.3	c.1095-2A>C	LP	—
19	GRM1	SCA44	NM_001278064.1	c.2375A>G: p.Y792C	P	Watson et al. (2017)
20	FAT2	SCA45	NM_001447.2	c.10758G>C: p.K3586N	P	Nibbeling et al. (2017)
21 a , 22 B	KIF26B	—	NM_018012.3	c.5710G>A: p.D1904N	P	Nibbeling et al. (2017)

^aMarker analysis showed no evidence of a shared ancestor with patient 22.

^bMarker analysis showed no evidence of a shared ancestor with patient 21.