|  | Wild type frequency | Frequency of mutation in heterozygous state | Frequency of mutation in homozygous state |
---|---|---|---|---|
1985A>W | Glu662 [Glu, Val] | 0.94 (21%) | 0.06 (4.7%) | 0 |
2008A>Y | Phe670 [Leu, Phe] | 0.55 (6.5%) | 0.25 (25%, 4.5) | 0.20 (7.6%, 1.1)1 |
2012A>M | Lys671 [Asn, Thr] | 0.99 (11.4%) | 0.01 (0%) | 0 |
2013G>T | Lys671 [Asn, Thr] | 0.99 (11.4%) | 0 | 0.01 (0%) |
2028G>S | Lys676 [Asn, Lys] | 0.99 (11.4%) | 0.01 (0%) | 0 |
2037T>Y | Leu679Phe | 0.57 (6.3%) | 0.35 (19.9%, 2.01) | 0.08 (10.3%, 1.36) |
2038G>A | Val680Ile | 0.998(11.4%) | 0 | 0.002 (0%) |
2040C>T | Val680Ile | 0.998(11.4%) | 0 | 0.002 (0%) |
2090G>R | Arg697 [His, Arg] | 0.997 (12.9%) | 0.001 (0%) | 0.003 (0%) |
2111C>y | Ser704 [Ser, Leu] | 0.998 (11.4%) | 0.002 (0%) | 0 |
2117G>A | Ser706Asn | 0.995 (11.4%) | 0 | 0.005 (0%) |
2126G>A | Arg709Lys | 0.997 (11.4%) | 0 | 0.003 (0%) |
2233G>R | Val745 [Ile, Val] | 0.995 (11.4%) | 0.001 (0%) | 0.004 (0%) |
2276G>A | Arg759Lys | 0.995 (11.4%) | 0 | 0.005 (0%) |
2296G>A | Val766Thr | 0.998 (11.4%) | 0 | 0.002 (0%) |
2297T>C | Val766Thr | 0.998 (11.4%) | 0 | 0.002 (0%) |