Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population

Table 3

List of final candidate variants.

Genomic coordinates					AA change	Gene	MAF		Functional prediction
	III-2	III-3	II2	I2			1kG (ASN)	Thai	SIFT	Polyphen 2 HumVar	Mutation taster
Chr2: 179549988	A/G	G/G	G/G	G/G	p.Pro9577Leu	TTN	0.01	0	Damaging	Probably damaging	Disease causing
Chr3: 38607905	C/T	C/T	C/C	C/C	p.Val1278Ile	SCN5A	0	0	Damaging	Probably damaging	Disease causing
Chr3: 38674698	C/T	C/C	C/T	C/C	p.Arg34His	SCN5A	0	0	Damaging	Possibly damaging	Disease causing
Chr3: 132438619	A/G	G/G	G/G	G/G	p.Ala150Val	NPHP3	0.02	0.0067	Damaging	Probably damaging	Disease causing
Chr9: 34506694	A/T	A/A	A/A	A/A	p.Tyr378Phe	DNAI1	0	0	Damaging	Benign	Disease causing
Chr11: 1271591	A/G	A/A	A/A	A/A	p.Lys4494Thr	MUC5B	0	0.0067	Damaging	Benign	Polymorphism

in this table are FWD genotype while genotypes in HGVS are REV genotype.