TABLE 1.

Human loss-of-function variants in CAPN5

Function	Transcript change	Protein change	Allele frequency	Allele count	Allele number	Number of homozygotes	Noncanonical transcript
Stop gained	c.762C > A	p.Tyr254Ter	0.0001453	17	117032	0	–
Stop gained	c.1617T > A	p.Tyr539Ter	0.00006292	6	95366	0	–
Stop gained	c.157C > T	p.Arg53Ter	0.0000518	6	115820	0	–
Stop gained	c.152G > A	p.Trp51Ter	0.00003439	4	116314	0	–
Stop gained	c.1306C > T	p.Gln436Ter	0.0000338	4	118350	0	–
Stop gained	c.1108C > T	p.Arg370Ter	0.00003068	3	97770	0	–
Stop gained	c.1753C > T	p.Arg585Ter	0.00002496	3	120174	0	–
Stop gained	c.1156C > T	p.Gln386Ter	0.00002268	1	44092	0	–
Stop gained	c.1660C > T	p.Gln554Ter	0.00001655	2	120850	0	–
Stop gained	c.905G > A	p.Trp302Ter	0.00001053	1	94930	0	–
Stop gained	c.721G > T	p.Glu241Ter	0.000009028	1	110770	0	–
Stop gained	c.446dupA	p.Tyr149Ter	0.000008259	1	121074	0	–
Stop gained	c.1855C > T	p.Gln619Ter	0.00000825	1	121206	0	–
Frameshift	c.841delC	p.Arg281AlafsTer25	0.00003388	4	118052	0	–
Frameshift	c.721delG	p.Glu241ArgfsTer9	0.00001816	2	110154	0	–
Frameshift	c.1390_1391insG	p.Pro464ArgfsTer27	0.000008246	1	121268	0	–
Splice acceptor	c.150−2A > T	–	0.0003796	46	121176	0	Yes
Splice acceptor	c.–35 − 2A > G	–	0.00002581	3	116246	0	–
Splice acceptor	c.1741 − 2A > G	–	0.000008385	1	119258	0	–
Splice donor	c.285 + 1G > T	–	0.002916	25	8574	1	Yes
Splice donor	c.149 + 1G > A	–	0.00005151	6	116476	0	Yes
Splice donor	c.893 + 1G > A	–	0.00001808	2	110624	0	–

Note: We interrogated the Exome Aggregation Consortium (ExAC) browser for human CAPN5 (ENSG00000149260; GRCh37/hg19; chr11:76777979–76837201). We found 880 variants, 22 of which were considered loss-of-function (LOF) variants for CAPN5 and tolerable in the human population.