Table 2.
No | Exon | Type of sequence alteration | Nucleotide alteration | Amino acid alteration |
1 | 18 | Substitution | 2174C→G | 725(ACG-ATG) Thr-Met |
2 | 18 | Substitution | 2073T→C | 691(CCT-CCC) Pro-Pro |
3 | 21 | Substitution | 2573T→G | 858(CTG-CGG) Leu-Arg |
4 | 18 | Substitution | 2091A→G | 697(GAA-GAG) Glu-Glu |
5 | 21 | Substitution | 2494C→T | 832(CGC-TGC) Arg-Cys |
21 | Substitution | 2604A→T | 868(GAA-GAT) Glu-Asp | |
6 | 18 | Substitution | 2160C→A | 720(TCC-TCA) Ser-Ser |
21 | Substitution | 2556G→T | 852(AAG-AAT) Thr-Met | |
7 | 18 | Substitution | 2173A→G | 725(ACG-GCG) Thr-Ala |
8 | 19 | Deletion | 2235–2249del GGA ATT AAG AGA AGC | E746-A750 deletion |
9 | 19 | Deletion | 2235–2249del GGA ATT AAG AGA AGC | E746-A750 deletion |
10 | 18 | Substitution | 2112G→A | 704(TTG-TTA) Leu-Leu |
11 | 18 | Substitution | 2108T→C | 703(CTC-CCC) Leu-Pro |
18 | Substitution | 2159C→T | 720(TCC-TTC) Se-Phe | |
12 | 18 | Substitution | 2099A→G | 700(AAC-AGC) Asn-Ser |
13 | 21 | Substitution | 2506C→A | 836(CGC-AGC) Arg-Ser |
14 | 18 | Substitution | 2123A→G | 708(AAG-AGG) Lys-Arg |
15 | 18 | Substitution | 2165C→A | 722(GCG-GTG) Ala-Val |
16 | 18 | Substitution | 2159C→T | 720(TCC-TTC) Ser-Phe |
19 | Substitution | 2232C→A | 744(ATC-ATT) Ile-Ile | |
17 | 18 | Substitution | 2161G→A | 721(GGT-AGT) Gly-Ser |
21 | Substitution | 2597A→G | 866(GAG-GGG) Glu-Gly | |
18 | 18 | Substitution | 2108T→C | 703(CTC-CCC) Leu-Pro |
19 | 21 | Substitution | 2559C→T | 853(ATC-ATT) Ile-Ile |
20 | 18 | Substitution | 2122A→G | 708(AAG-GAG) Lys-Glu |
21 | 18 | Substitution | 2108T→C | 703(CTC-CCC) Leu-Pro |
22 | 21 | Substitution | 2472C→A | 824(GGC-GGA) Gly-Gly |
23 | 18 | Substitution | 2136C→T | 712(TTC-TTT) Phe-Phe |
24 | 21 | Substitution | 2481C→T | 827(TAC-TAT) Tyr-Tyr |