Region | Mutation | Nucleotide position | Type of mutation | AA changes | AA position | SV |
---|---|---|---|---|---|---|
EXON 1 | A↔C | 28 | Transversion | S↔R | 10 | SV9 |
A↔- | 39 | In/Del | ORF schift | 13 | SV9 | |
C↔G | 43 | Transversion | P↔A | 15 | SV2-SV10 | |
A↔T | 58 | Transversion | L↔M | 20 | SV5-SV10 | |
C↔T | 85 | Transition | L↔F | 29 | SV2-SV10 | |
AGT | 100 | In/Del | S | 33 | SV6-SV10 | |
C↔G | 109 | Transversion | Q↔E | 37 | SV5 | |
EXON 3 | A↔T | 1119 | Transversion | N↔D | 213 | SV2-SV10 |
EXON 4 | G↔A | 1626 | Transition | E↔K | 381 | SV2, SV10 |
EXON 5 | A↔G | Transition | N↔S | 427 | SV2, SV7-SV10 | |
A↔G | Transition | K↔E | 457 | SV2-SV4, SV6-SV9 | ||
T↔C | Transition | I↔T | 474 | SV2-SV10 |