Table 2.
Gene | Disease causing variants |
---|---|
KIT –9 |
Codon A502_Y503dup
• 9 (A502_Y503dup), (n = 7) Non-codon A502_Y503dup • 9 (Y503_F504insAY), (n = 2) • 9 (Y503_F504insAH) (n = 2) |
KIT –11 |
Codon 557_558del
• 11 (W557_K558delinsS), (n = 10) Non- codon 557_558del • 11 (D579_H580 insert IDPTQLPYD), (n = 3) • 11 (P551_W557del), (n = 2) • 11 (E554_K558del), (n = 2) • 11 (K558_I563del), (n = 2) • 11 (Y568_L576delinsCV), (n = 1) • 11 (P551_V560del,insL), (n = 1) • 11 (Q556_I571del), (n = 1) • 11 (L576P), (n = 1) • 11 (V559D), (n = 1) |