Table 2.

Likely damaging variants previously identified in DNAJC7 in multiple ALS cohorts.

cDNA Change	Protein Change	Variant Type	ALS Cases (N)	GnomAD (Non-Neuro v2.1.1) MAF	In Silico Prediction (CADD)	Reference
c.22G > C	p.D8H	Missense	1 (5095)	0.0000198	25	Farhan et al., 2019 [3]
c.97G > T	p.E33X	Stop gain	1 (5095)	0	39	Farhan et al., 2019 [3]
c.358C > T	p.Q120X	Stop gain	1 (5095)	0	37	Farhan et al., 2019 [3]
c.401_402delAA	p.Q134Rfs*6	Truncating frameshift	1 (325)	0	31	Jih et al., 2020 [26]
c.410A > G	p.K137R	Missense	1 (326)	0	23	Sun et al., 2021 [29]
c.466C > T	p.R156X	Stop gain	2 (5095)	0	41	Farhan et al., 2019 [3]
c.467G > A	p.R156Q	Missense	1 (701)	0.0000146	23	He et al., 2021 [28]
c.488delT	p.F163fs*17	Frameshift	1 (5095)	0	NA	Farhan et al., 2019 [3]
c.631G > A	p.D211N	Missense	1 (5095)	0	26	Farhan et al., 2019 [3]
c.646C > T	p.R216X	Stop gain	2 (5095)	0	40	Farhan et al., 2019 [3]
c. 712A > G	p.R238G	Missense	1 (578)	0	24	Wang et al., 2020 [27]
c.754-3T > C	NA	Essential splice site	1 (701)	0.0000244	15	He et al., 2021 [28]
c.1011-2A > G	NA	Essential splice site	1 (5095)	0	26	Farhan et al., 2019 [3]
c.1012T > A	p.Y338N	Missense	1 (701)	0	28	He et al., 2021 [28]
c.1234C > T	p.R412W	Missense	1 (5095)	0.0000040	34	Farhan et al., 2019 [3]
c.1273G > A	p.E425K	Missense	2 (5095)	0	35	Farhan et al., 2019 [3]

ALS, amyotrophic lateral sclerosis; CADD, combined annotation-dependent depletion; MAF, minor allele frequency; N, total cohort size; NA, not applicable.