Table 2.
Case | Exon | Substitution | Type | Mutation | KIT mutations reported in gastrointestinal stromal tumors | |
---|---|---|---|---|---|---|
3 | Exon 11 | 1673C>T | Missense | Pro551Leu | Pro551Leu Met552del | Antonescu et al17 |
3 | Exon 11 | 1747C>T | Missense | Leu576Phe | Leu576Phe | Zamo et al20, Gomes et al21 |
3 | Exon 11 | 1755T>C | Silent | Tyr578 | ||
3 | Exon 11 | 1759C>T | Missense | His580Tyr | ||
5 | Exon 17 | 2458C>T | Silent | Leu813 | ||
7a | Exon 11 | 1693A>G | Missense | Lys558Glu | Lys558Ile Val559del | Zamo et al20 |
Lys558Gln | Antonescu et al17 | |||||
7a | Exon 11 | 1706A>T | Missense | Glu562Val | ||
7a | Exon 11 | 1792T>C | Missense | Phe591Leu | ||
7a | Exon 17 | 2459T>C | Missense | Leu813Pro | ||
7b | Exon 9 | 1508A>T | Missense | Asp496Val | ||
7b | Exon 9 | 1476C>T | Silent | His485 | ||
7b | Exon 17 | 2430T>C | Silent | Gly803 | ||
8 | Exon 9 | 1470C>T | Silent | Phe483 | ||
8 | Exon 11 | 1731C>T | Silent | Tyr570 | ||
8 | Exon 13 | 1936T>C | Missense | Ser639Pro | ||
8 | Exon 17 | 2415C>T | Silent | Ile798 | ||
10 | Exon 9 | 1512G>A | Silent | Val497 | ||
10 | Exon 9 | 1555A>G | Missense | Asn512Asp | ||
10 | Exon 11 | 1771T>C | Missense | Phe584Leu | ||
11 | Exon 13 | 1949T>C | Missense | Val643Ala | Val643Ala | Lasota et al23 |
12 | Exon 17 | 2486A>G | Missense | Asn822Ser | Asn822Lys, Asn822His Asn822Tyr | Lasota et al23 |