Table 1.

Variants discovered in the proband.

Gene	Genomic location (hg38)	Inheritance	Variant impact	ACMG classification	Conservation prediction (GERP/PhyloP100way/PhastCons100way)	Allele count gnomAD (homozygous/total)	Allele frequency gnomAD (exomes/genomes)
CAPN1	NC_000011.10: g.64975716A>G NM_001198868.2: c.1712A>G NP_001185797.1: p.Asn571Ser	Paternal	Missense, conservative amino acid exchange	Likely pathogenic	5.23/9.318/1.000	0/4	ƒ = 0.0000167/0.0000319
CAPN1	NC_000011.9: g.64977855C>T NM_001198868.2: c.1991C>T NP_001185797.1: p.Ser664Leu	Maternal	Missense, nonconservative amino acid exchange	Likely pathogenic	4.21/7.555/0.961	0/3	ƒ = 0.0000121/0
RCL1	NC_000009.11: g.4827019C>T NM_005772.5: c.370C>T NP_005763.3: p.Gln124Ter	Paternal	Stop‐gain	Pathogenic	5.92/7.542/1.000	0/0	ƒ = 0/0