Years | Loci with only 1 mutation | AL | Coding | AAV | TMD | |
---|---|---|---|---|---|---|
Number | Loci | |||||
2014 | 1 | c.543a | C>T | TAC/TAT | Y181Y | 3 |
1 | c.553a | T>C | TTT/CTT | F185L | 3 | |
1 | c.744a | C>T | ACC/ACT | T248T | Inside | |
1 | c.1197a | A>G | GAA/GAG | E399E | Inside | |
1 | c.1309a | C>T | CCC/TCC | P437S | Inside | |
1 | c.1329a | C>T | ATC/ATT | I443I | Inside | |
1 | c.1659a | G>T | TCG/TCT | S553S | Inside | |
1 | c.1953a | G>T | GTG/GTT | V651V | Inside | |
1 | c.2016 | G>C | AAG/AAC | K672N | Inside | |
1 | c.2288 | C>T | GCG/GTG | A763V | Inside | |
1 | c.2356a,c | A>G | AGT/GGT | S786G | Inside | |
1 | c.3147a | T>C | GCT/GCC | A1049A | Inside | |
1 | c.3803a | G>T | AGT/ATT | S1268I | Inside | |
1 | c.3855a | C>T | TGC/TGT | C1285C | Inside | |
1 | c.4266a | G>A | AGG/AGA | R1422R | Inside | |
2021 | 1 | c.3064 | C>T | CTA/TTA | L1022L | Inside |
1 | c.3832 | C>T | CTG/TTG | L1278L | Inside | |
1 | c.4065 | A>G | AAA/AAG | K1355K | Inside | |
2022 | 1 | c.2524 | T>A | TTT/ATT | F842I | 7 |
Total | 19 | Â | Â | Â | Â | Â |