c.620C>T mutation in GATA4 is associated with congenital heart disease in South India

BMC Medical Genetics

Table 2 Detailed description of GATA4 mutations identified in this study

S. no.	dbSNP	Exon/intron	Coordinate position	Nucleotide variation	Mutation type	A.A change	Frequency of mutation
							ASD	VSD	TOF	SV	Control
							33	32	32	3	200
1	rs61277615	Exon1	11561728	C>T	5′UTR	-	0.06061	0.03125	0.03125	0	0.0125
2	rs73203482	Intron1	11561818	G>A	Splice junction	-	0.0303	0.03125	0.04688	0	0.0075
3	CM051488	Exon3	11606451	G>A	Synonymous	G214G	0.04545	0	0	0	0.0125
4	rs804280	Intron5	11612698	A>C	Intronic	-	0	0.07812	0.0625	0	0.0125
5	rs2645457	Intron5	11614112	T>G	Intronic		0.01515	0.01562	0.01562	0	0.005
6	rs4841587	Intron5	11614175	G>T	Intronic	-	0.0303	0.07812	0.03125	0	0.0175
7	rs4841588	Intron5	11614225	G>T	Intronic	-	0.01515	0.1562	0.0625	0	0.02
8	rs111272281	Intron5	11614264	A>del	Intronic	-	0	0.0625	0.03125	0	0.005
9	rs3729853	Intron5	11614316	C>T	Intronic	-	0.0303	0.2188	0.07812	0	0.055
10	rs3729854	Intron5	11614329	C>T	Intronic	-	0.01515	0.04688	0.04688	0	0.01
11	rs142395583	Intron5	11614337	T>A	Intronic	-	0	0.01562	0.01562	0	0.0125
12	rs745379	Intron6	11615695	A>G	Intronic	-	0.04545	0.1094	0.1719	0.16	0.01
13	rs200319078	Exon7	11615835	C>A	Missence	P394T	0.01515	0	0	0	0.005
14	rs56208331	Exon7	11615928	G>A	Missence	D425N	0	0.01562	0	0	0.0025
15	rs884662	Exon7	11616501	T>C	3′UTR	-	0	0.01562	0.01562	0	0.0125
16	rs904018	Exon7	11616516	C>T	3′UTR	-	0.04545	0.01562	0.03125	0	0.0225
17	rs12825	Exon7	11616547	C>G	3′UTR	-	0.01515	0.09375	0.1094	0	0.0825
18	rs12458	Exon7	11617240	A>T	3′UTR	-	0	0	0	0	0.01
19	rs3203358	Exon7	11617505	C>G	3′UTR	-	0.01515	0.01562	0.01562	0	0.0125

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