NOTCH1 Mutations in Aortic Stenosis: Association with Osteoprotegerin/RANK/RANKL

Table 4

Genetic variants in NOTCH1 gene in patients with AS and control population.

Exon	Gene position NG_007458.1	Protein position	New/reported	Patients	Control group	MAF ExAC
Missense variants in NOTCH1 gene
24	44159 G/A	E1305K	New	5/61	0/200	—
23	43969 G/A	D1267N	New	2/61	0/200	—
23	44006 G/A	R1279H	rs61751543		4/200	0.02
Synonymous variants in NOTCH1 gene
34	53339 G/A	P2097P	rs201987555	1/61	0/200	0.01
34	53602 С/T	D2185D	rs2229974		60/200	0.61
34	53696 G/A	P2216P	rs3812596	4/61	0/200	0.01

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