Mutation | Nucleotide change | Position cDNA | Codon | Exon/Intron | References | polymorphisms | Exon/intron | References |
---|
| | | | | | IVS3-16 c.419-16 delT | 4 | |
| | | | | | T146T c.438 C > T | 4 | [31] |
p.R88P | G > C | 263 | 88 | 3 | [28] | T214M c.641 C > T | 5 | |
| | | | | | IVS5-87 c.709-87 G > A | 6 | |
| | | | | | IVS7+38 c.1006+38 T > C | 7 | This report |