Variant types | Single nucleotide polymorphism | Base substitution | Variant Frequency | Wild type | Status | Variant type |
---|---|---|---|---|---|---|
Wild type | – | – | – | 241 (1) | – | WT |
K189T | c.566A > C | AAA > ACA | 1 [0.004] | 240 [0.99] | – | NS |
C469Y | c.1407C > G | TGC > TGG | 1 [0.004] | 240 [0.99] | Candidate | NS |
M476I | c.1428G > T | ATG > ATT | 3 [0.01] | 238 [ 0.98] | Validated | NS |
F483I | c.1447T > A | TTT > ATT | 9 [0.04] | 232 [0.96] | – | NS |
S485N | c.1454G > A | AGT > AAT | 7 [0.03] | 234 [0.97] | – | NS |
F491F | c.1473F > F | TTC > TTT | 52 [0.22] | 189 [0.78] | – | S |
L492L | c.1476A > G | TTA > TTG | 2 [0.01] | 239 [0.99] | – | S |
F506V | c.1516 T > G | TTT > GTT | 8 [0.03] | 232 [0.96] | – | NS |
T508N | c.1523C > A | ACT > AAT | 12 [0.05] | 229 [0.95] | – | NS |
S577L | c.1730S > L | TCA > TTA | 13 [0.05] | 228 [0.95] | – | NS |