Table 3.
Mutation | Population variant | ExAC prevalence |
---|---|---|
M5I | M5R | 1 allele |
S20I | S20L, S20W | 11 alleles, 1 allele |
A24T | None | |
A25V | None | |
R27H | None | |
G35R | None | |
F43L | None | |
R48H | R48L | 1 allele |
Y52stop | None | |
S53R | None | |
R61H | R61H | 1 allele |
R64C, R64H | R64C | 1 allele |
V67I | None | |
R73C, R73H | None | |
E91K | None | |
S95L | None | |
P98L | P98L, P98Q | 1 allele, 1 allele |
P102L | P102L | 6 alleles |
F114L | None | |
R127C, R127H, R127S | None | |
G129S | None | |
L133V | None | |
#R137Afs*22 | None | |
K153I | None | |
H155D | None | |
L161V | None | |
T163L | None | |
D165Y | D165E | 1 allele |
#G170Afs*30 | G170D, G170S | 2 alleles, 1 allele |
A171T | A171V | 1 allele |
#P173Qfs*27 | P173A, P173Q, P173R, P173S | 4 alleles, 1 allele 4 alleles, 3 alleles |
#E174Rfs*50 | E174D | 1 allele |