E/I | NT | Base Change | Codon | AA Change | Designation | Variation type | BIC Entry |
---|---|---|---|---|---|---|---|
I-7 | 560+36 | C>T | Non- coding | -- | IVS7+36T>C | UV | No |
I-7 | 560+38 | T>C | Non- coding | -- | IVS7+38T>C | UV | Yes |
I-7 | 560+41 | C>T | Non- coding | -- | IVS7+41C>T | UV | No |
I-7 | 560+49 | DelT | Non- coding | -- | IVS7+49del15 | UV | No |
I-8 | 561-34 | C>T | Non- coding | -- | IVS7-34C>T | IVS | Yes |
11-B | 2196 | G>A | 693 | Asp > Asn | c.2196G>A | M-P | Yes |
11-B | 2201 | C>T | 694 | Ser>Ser | c.2201C>T | Silent-P | Yes |
11-B | 2430 | T>C | 771 | Leu>Leu | c.2430T>C | Silent-P | Yes |
11-C | 2731 | C>T | 871 | Pro>Leu | c.2731C>T | M-P | Yes |
11-C | 3232 | A>G | 1038 | Glu>Gly | c.3232A>G | M-P | Yes |
11-D | 3667 | A>G | 1183 | Lys>Arg | c.3667A>G | M-P | Yes |
13 | 4427 | T>C | 1436 | Ser>Ser | c.4427T>C | Silent-P | Yes |
16 | 4931 | A>G | 1604 | Gln>Gln | c.4931A>G | Silent-P | Yes |
16 | 4956 | A>G | 1613 | Ser>Gly | c.4956A>G | M-P | Yes |
16 | 5075 | A>G | 1652 | Met>Ile | c.5075G>A | M-P | Yes |