cDNA change(s) | Location | Codon change | Amino acid change | Designation | Comments | Reference(s) |
---|---|---|---|---|---|---|
c.365G>A | Exon3 | CGC>CAC | Arg>His at 122 | R122H | At CpG (antisense strand) | 2,6 |
C.365~366GC>AT | Exon3 | CGC>CAT | Arg>His at 122 | R122H | Gene conversion | 5,6 |
C.364C>T | Exon3 | CGC>TGC | Arg>Cys at 122 | R122C | At CpG (sense strand) | This study |