Table 2.

The Procedure of Filtering Rare Pathogenic Variants Causing Cardiomyopathy from 5 Patients with R14del.

Filtering criteria	Pt. 1	Pt. 2	Pt. 3	Pt. 4	Pt. 5
(i) Exonic variants excluding synonymous ones or splice-site variants	14,972	14,794	15,546	15,247	15,276
(ii) Variants included in 57 genes in Table 1	127	123	127	104	116
(iii) Variants with a minor allele frequency <0.1% in multiple variation databases	3	2	2	4	4
(iv) Variants listed as DM/DM? in HGMD or P/LP in ClinVar	1	1	1	1	1

The number of variants remained after each filtering criteria is shown. We used the Human Genome Variation Database version 2.3 (HGVD), the Tohoku Medical Megabank Organization 3.5kJPNv2 (Tommo) and genome aggregation database v2.1.1 (gnomAD) as variation databases in filtering criteria (iii).

DM: disease causing mutation, DM?: likely disease causing mutation, P: pathogenic, LP: likely pathogenic