|  | Wild type frequency | Frequency of mutation in heterozygous state | Frequency of mutation in homozygous state |
---|---|---|---|---|
881G>R | Ser294 [Ser, Asn] | 0.84 (12.6%) | 0.14 (5.7%) | 0.02 (0%) |
883A>R | Lys295 [Lys, Glu] | 0.84 (12.6%) | 0.14 (5.7%) | 0.02 (0%) |
892T>Y | Trp298 [Trp, Arg] | 0.84 (12.6%) | 0.14 (5.7%) | 0.02 (0%) |
934G>A | Val312Met | 0.998 (11.4%) | 0 | 0.002 (0%) |
955T>C | Ser319Pro | 0.998 (11.4%) | 0 | 0.002 (0%) |
1029T>K | Asp343 [Glu, Asp] | 0.993 (11.4%) | 0.007 (0%) | 0 |
1032G>S | Lys344 [Asn, Lys] | 0.87 (12.6%) | 0.12 (3.5%) | 0.012 (0%) |
1045A>G | Lys349Glu | 0.998 (11.4%) | 0 | 0.002 (0%) |
1052G>R | Arg351 [His, Arg] | 0.87 (12.3%) | 0.12 (5.8%) | 0.012 (0%) |
1066T>Y | Phe356 [Leu, Phe] | 0.36 (14.3%) | 0.52 (8.2%) | 0.12 (16.4%, 1.64)1 |
1088A>R | Asp363 [Asp, Gly] | 0.84 (12.5%) | 0.14 (5.7%) | 0.02 (0%) |
1091T>Y | Val364 [Val, Ala] | 0.84 (12.5%) | 0.14 (5.7%) | 0.02 (0%) |
1097C>S | Thr366 [Thr, Ser] | 0.84 (12.5%) | 0.14 (5.7%) | 0.02 (0%) |
1166G>S | Ser389 [Thr, Ser] | 0.998 (11.4%) | 0.001 (0%) | 0 |
1183G>K | Asp395 [Asp, Tyr] | 0.84 (12.5%) | 0.14 (6%) | 0.002 (0%) |