Table 2 Mutations in JAK2 (NM_008413) identified in 72 non-sarcomeric HCM patients
From: Integration of transcriptomic data identifies key hallmark genes in hypertrophic cardiomyopathy
Sample ID | Het/hom | AA change | SNP | MAF |
|---|---|---|---|---|
H13, H53, H44, H07 | het | N1108S | rs142269166 | 1.96e−3 |
H17 | het | L892V | rs201551707 | 6.56e−4 |
H24, H51 | het | L393V | rs2230723 | 7.88e−3 |
H60, H65 | het | R1063H | rs41316003 | 4.37e−3 |