. 2019 May 28;2019:9103860. doi: 10.1155/2019/9103860

Table 1.

The filtered data of whole exome sequencing.

Gene	Inheritance		Transcript Variant	Protein Variant	SIFT	PolyPhen-2	MutationTaster	OMIM Clinical Phenotype	GTEx (expression in heart)	ToppGene Function
JUP	De novo	- -	c.1729C>T	p.R577C	Damaging	Damaging	Disease-causing	AD, Arrhythmogenic right ventricular dysplasia	84.83	Desmosome assembly
MEF2A	De novo	- -	c.335C>T	p.P112L	Tolerated	Damaging	Disease-causing	AD, Coronary artery disease	32.23	Mitochondrion distribution; Cardiac myofibril assembly
DCST1	De novo	- -	c.1004delG	p.R335fs	Damaging	Damaging	Disease-causing	- -	0.7	Antigen processing and display for immune responses
NPIPB6	HR	Paternal	c.983C>G	p.P328R	Damaging	Damaging	Disease-causing	- -	0.12	- -
NPIPB6	HR	Maternal	c.983C>G	p.P328R	Damaging	Damaging	Disease-causing	- -	0.12	- -
IGFN1	CH	Paternal	c.86C>T	p.P29L	Damaging	Damaging	Disease-causing	- -	0.3	Contractile fiber part
IGFN1	CH	Maternal	c.1253A>C	p.Q418P	Tolerated	Unknown	Polymorphism	- -	0.3	Contractile fiber part
DNAH6	CH	Paternal	c.2912G>A	p.R971K	Damaging	Damaging	Polymorphism	AR, Primary ciliary dyskinesia	0.08	Cilium movement; Microtubule-based movement
DNAH6	CH	Maternal	c.3458G>A	p.R1153Q	Tolerated	Damaging	Disease-causing	AR, Primary ciliary dyskinesia	0.08	Cilium movement; Microtubule-based movement
ITPR3	CH	Paternal	c.1132G>A	p.D378N	Tolerated	Damaging	Disease-causing	AR, Diabetes	11.23	Inositol phosphate-mediated signaling
ITPR3	CH	Maternal	c.4185C>G	p.D1395E	Damaging	Benign	Disease-causing	AR, Diabetes	11.23	Inositol phosphate-mediated signaling

Transcript IDs: JUP, NM_002230; MEF2A, NM_001130928; DCST1, NM_152494; NPIPB6, NM_001282524; IGFN1, NM_001164586; DNAH6, NM_001370; ITPR3, NM_002224. AD, autosomal dominant; AR, autosomal recessive; CH, compound heterozygous; HR, homozygous recessive; OMIM, Online Mendelian Inheritance in Man.