Table 2.

The known and likely pathogenic mutations of Brugada syndrome and long QT syndrome

ID	DS	Chr	Start	Gene	Amino acid change	Het	1000 g/Esp	SIFT	Polyphen	Clinic	ACMG	Evidence	dbSNP
2	LQTs	chr11	2,604,664	KCNQ1	NM_000218:exon7:c.922-1G > C	±	–	–	–	P	P	PVS1, PM2_Supporting, PP4, PP1	rs387906290
5	Brs	chr3	38,598,739	SCN5A	NM_001160161:exon23:c.G4120T:p.A1374S	±	0.001	0.00(D)	1.00(D)	LP	VUS	PM2_Supporting, PM1, PP3	rs200034939
8	Brs	chr3	38,640,451	SCN5A	NM_000335:exon13:c.C1981T:p.R661W	±	< 0.001	0.00(D)	1.00(D)	P	VUS	PM2_Supporting, PP3	rs199473139
10	Brs	chr3	38,622,757	SCN5A	NM_000335:exon17:c.C2893T:p.R965C	±	0.001	0.00(D)	1.00(D)	LP	VUS	PM2_Supporting, PS4_M, PS3_Supporting, PP3	rs199473180
11	Brs	chr18	29,116,333	DSG2	NM_001943:exon11:c.T1592G:p.F531C	±	–	0.00(D)	1.00(D)	LP	LP	PM2_Supporting, PM3_Strong, PS3_Supporting	rs200484060
		chr3	38,598,739	SCN5A	NM_001160161:exon23:c.G4120T:p.A1374S	±	0.001	0.00(D)	1.00(D)	LP	VUS	PM2_Supporting, PS4_Supporting, PP3	rs200034939
13	LQTs	chr3	38,592,170	SCN5A	NM_001099405:exon27:c.G5639A:p.R1880H	±	< 0.001	0.06(T)	0.99(D)	P	VUS	PM2_Supporting, PS4_Supporting, PP3	rs370694515
18	Brs	chr7	150,644,473	KCNH2	NM_172057:exon9:c.G2075A:p.R692Q	±	0.001	0.58(T)	1.00(D)	LP	VUS	PM2_Supporting, PP2	rs199473020
19	LQTs	chr11	2,604,664	KCNQ1	NM_000218:exon7:c.922-1G > C	±	–	–	–	P	P	PVS1, PM2_Supporting, PP4, PP1	rs387906290
21	LQTs	chr7	150,649,569	KCNH2	NM_001204798:exon2:c.G481A:p.D161N	±	–	0.00(D)	1.00(D)	P	LP	PM2_Supporting, PS4_M, PS3_Supporting, PP2, PP3	rs199472912
22	LQTs	chr11	2,593,286	KCNQ1	NM_000218:exon5:c.C727A:p.R243S	±	–	0.00(D)	1.00(D)	P	LP	PM2_Supporting, PM5, PM1, PP3	rs199472713

DS diseases, LQTs long QT syndrome, Brs Brugada syndrome, Chr chromosome, 1000G/Esp 1000genomes (2015 version) or Esp6500 database, SNP single nucleotide polymorphism, PP polyphen-2, D damaging, B benign, T tolerated, ± heterozygous carrier, P pathogenic, LP likely pathogenic, – no report