| Exon 12 | 580 | |||||||||
| Wild type | L | P | Y | D | S | R | W | E | F | P |
| Case 4 | L | P | Y | G | S | R | W | E | F | P |
| Case 71 | L | P | Y | – | – | – | – | E | F | P |
| Exon 18 | 840 | |||||||||
| Wild type | A | R | D | I | M | H | D | S | N | Y |
| Cases 41, 54 | A | R | V | I | M | H | D | S | N | Y |
| Case 34 | A | R | D | T | – | – | – | – | N | Y |
–, deleted amino acid residues.
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