Table 2.
Nucleotide Change | Amino Acid Substitution | Mutation Type | Prevalence |
---|---|---|---|
c.1834C > T | p.Q612 | Substitution nonsense | 2/40,072 |
c.1778G > A | p.G593D | Substitution missense | 1/21,576 |
c.1793C > T | p.A598V | Substitution missense | 2/21,576 |
c.1796C > G | p.T599R | Substitution missense | 1/21,576 |
c.? | p.T599I | Substitution missense | 3/21,576 |
c.1801A > G | p.K601E | Substitution missense | 54/21,576 |
c.1794_1795insGTT | p.A598_T599insV | Insertion inframe | 8/13 |
c.1795_1796insTAA | p.A598_T599insI | Insertion inframe | 1/13 |
c.1795_1796ins27 | p.A598_T599insKKIGDFGLA | Insertion inframe | 1/13 |
c.1796_1797insTAC | p.T599_V600insT | Insertion inframe | 1/13 |
c.1797_1798ins9 | p.T599_V600insETT | Insertion inframe | 1/13 |
c.1798_1799ins18 | p.T599_V600insDFGLAT | Insertion inframe | 1/13 |
c.? | p.K601del | Deletion inframe | 3/6 |
p.V600_W604del | p.V600_W604del | Deletion inframe | 1/6 |
c.1801_1803delAAA | p.K601del | Deletion inframe | 1/6 |
c.1801_1812del12 | p.K601_W604del | Deletion inframe | 1/6 |
c.1799_1814 > ATGT | p.V600_S605 > DV | Complex | 1/33 |
c.1796_1809 > TC | p.T599_R603 > I | Complex | 4/33 |
c.1799_1801delTGA | p.V600_K601 > E | Complex | 15/33 |
c.1798_1798G > TACA | p.V600 > YM | Complex | 4/33 |
c.1796_1798CAG > TAGCTT | p.T599_V600 > IAL | Complex | 2/33 |
c.? | p.T599_V600 > IYI | Complex | 1/33 |
c.? | p.T599_R603 > I | Complex | 1/33 |
c.? | p.V600_K601 > E | Complex | 1/33 |
c.? | p.V600 > YM | Complex | 1/33 |
c.1799_1801delTGA | p.V600_K601 > E | Complex | 3/33 |