aa change | cDNA change | Exon | Case No.a | Classb |
---|---|---|---|---|
p.G464Ic | c.1390_1391delinsAT | 11 | 1 | likely 2 |
p.G464R | c.1390G > A | 11 | 1 | likely 2 |
p.G466A | c.1397G > C | 11 | 1 (1) | 3 |
p.G466E | c.1397G > A | 11 | 2 | 3 |
p.G466 V | c.1397G > T | 11 | 3 (1) | 3 |
p.S467 L | c.1400C > T | 11 | 4 (1) | 3 |
p.G469A | c.1406G > C | 11 | 2 | 2 |
p.G469E | c.1406G > A | 11 | 2 (2) | 3 |
p.G469R | c.1405G > A | 11 | 1 | 2 |
p.G469 V | c.1406G > T | 11 | 1 (1) | 2 |
p.N581I | c.1742A > T | 15 | 1 | 3 |
p.N581 T | c.1742A > C | 15 | 1 | likely 3 |
p.L584F | c.1750C > T | 15 | 1 (1) | UK |
p.E586K | c.1756G > A | 15 | 1 | UK |
p.G593D | c.1778G > A | 15 | 1 | UK |
p.D594E | c.1782 T > A | 15 | 1 (1) | 3 |
p.D594G | c.1781A > G | 15 | 1 (1) | 3 |
p.D594N | c.1780G > A | 15 | 5 (2) | 3 |
p.G596C | c.1786G > T | 15 | 1 | likely 3 |
p.L597Q | c.1790 T > A | 15 | 2 (1) | 2 |
p.L597R | c.1790 T > G | 15 | 1 (1) | likely 2 |
p.L597S | c.1789_1790delinsTC | 15 | 1 | likely 2 |
p.T599dup | c.1795_1797dup | 15 | 1 | UK |
p.V600E | c.1799 T > Ad | 15 | 117 (44) | 1 |
p.V600K | c.1798_1799delinsAA | 15 | 27 (7) | 1 |
p.V600R | c.1798_1799delinsAG | 15 | 3 (1) | 1 |
p.K601E | c.1801A > G | 15 | 4 (2) | 2 |
p.R603* | c.1807C > T | 15 | 1 | UK |
p.S605Ic | c.1814G > T | 15 | 1 (1) | UK |
p.S607F | c.1820C > T | 15 | 1 | UK |