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. 2015 Jul 1;10(7):e0130329. doi: 10.1371/journal.pone.0130329

Table 6. Clinical background of patients with long-QT interval and RYR2 mutation.

cDNA level change Protein level change age sex Affected family members QTc event
c.497C>G p.S166C 11 F none 416 Syncope during swim, novel
c.1259G>A p.R420Q 14 M none 412 Syncope during swim (12 y), SD (17 y)
c.1298T>C p.L433P 18 F none 452 VF during exercise (17 y)
c.5278C>T p.R1760W 16 M none 425 Syncope during swim, novel
c.8470C>T p.R2824W 7 M none 439 Asympt, novel
c.11017C>T p.R3673W 16 M none 469 Heart failure, novel
c.12272C>T p.A4091V 16 M none 443 CA during exercise
c.12438G>C p.E4146D 2 F none 401 VF, novel
c.13780A>C p.K4594Q 12 F none 496 Syncope during swim (10 y), novel