TABLE 2.
KIT mutations in 49 GISTs.
Exon | Mutation site | Amino acid change | Mutation types | Mutation ratio% (n/n) | |
---|---|---|---|---|---|
9 | c.1502_1503insTGCCTT | p.S501delinsSAF | nonframeshift insertion | 2.04% (1) | |
9 | c.1502_1503insTGCCTA | p.S501delinsSAY | nonframeshift insertion | 16.32% (8) | |
10 | c.T1679A | p.A560N | missense | 2.04% (1) | |
10 | c.A1621C | p.M541L | missense | 10.20% (5) | |
11 | c.1648_1672del | p.K550fs | frameshift deletion | 2.04% (1) | |
11 | c.1652_1669del | p.551_557del | nonframeshift deletion | 2.04% (1) | |
11 | c.1653_1664del | p.551_555del | nonframeshift deletion | 2.04% (1) | |
11 | c.1658_1711del | p.553_571del | nonframeshift deletion | 2.04% (1) | |
11 | c.1659_1670del | p.553fs | frameshift deletion | 2.04% (1) | |
11 | c.1659_1712del | p.553_572del | nonframeshift deletion | 2.04% (1) | |
11 | c.1660_1683del | p.554_561del | nonframeshift deletion | 2.04% (1) | |
11 | c.1662_1688del | p.554_563del | nonframeshift deletion | 2.04% (1) | |
11 | c.1665_1718del | p.555_573del | nonframeshift deletion | 2.04% (1) | |
11 | c.1667_1672del | p.556_558del | nonframeshift deletion | 4.08% (2) | |
11 | c.1667_1681del | p.556_561del | nonframeshift deletion | 4.08% (2) | |
11 | c.1668_1679del | p.556_560del | nonframeshift deletion | 2.04% (1) | |
11 | c.1668_1670del | p.W557fs | frameshift deletion | 2.04% (1) | |
11 | c.T1669A | p.W557R | missense | 6.12% (3) | |
11 | c.T1669C | p.W557R | missense | 2.04% (1) | |
11 | c.1671_1685del | p.557_562del | nonframeshift deletion | 2.04% (1) | |
11 | c.A1672G | p.K558E | missense | 2.04% (1) | |
11 | c.1673_1714del | p.558_572del | nonframeshift deletion | 2.04% (1) | |
11 | c.1675_1677del | p.559_559del | nonframeshift deletion | 2.04% (1) | |
11 | c.1675_1695del | p.559_565del | nonframeshift deletion | 2.04% (1) | |
11 | c.1676_1726del | p.559_576del | nonframeshift deletion | 2.04% (1) | |
11 | c.T1676G | p.V559G | missense | 4.08% (2) | |
11 | c.T1676C | p.V559A | missense | 6.12% (3) | |
11 | c.T1676A | p.V559D | missense | 6.12% (3) | |
11 | c.T1679A | p.V560D | missense | 2.04% (1) | |
11 | c.T1679C | p.V560E | missense | 2.04% (1) | |
11 | c.T1680G | p.V560E | missense | 2.04% (1) | |
11 | c.1704_1727del | p.568_576del | nonframeshift deletion | 4.08% (2) | |
11 | c.1708_1709insACATAGACCCAACACAACTTCCTTATGATC | p.Y570delinsYIDPTQLPYDH | nonframeshift insertion | 2.04% (1) | |
11 | c.1728_1730del | p.576_577del | nonframeshift deletion | 2.04% (1) | |
13 | c.A1924G | p.K642E | missense | 2.04% (1) | |
17 | c.G2446C | p.D816H | missense | 2.04% (1) |