Amino acid change | Nucleotide | Frequency | |||
---|---|---|---|---|---|
HSCR | Control | ||||
−193 | C | 0.98 | 0.93 | ||
G | 0.02 | 0.07 | |||
−106 | G | 0.96 | 0.86 | ||
A | 0.04 | 0.14 | |||
−78 | T | 0.69 | 0.68 | ||
C | 0.31 | 0.32 | |||
D14A | 41 | A | >0.99 | 0.99 | |
C | <0.01 | 0.01 | |||
Y85N | 253 | T | 0.98 | 0.96 | |
A | 0.02 | 0.04 | |||
N86D | 256 | A | >0.99 | 0.99 | |
G | <0.01 | 0.01 | |||
N179N | 537 | T | 0.6 | 0.59 | |
C | 0.4 | 0.41 | |||
IVS5+21 | G | 0.92 | 0.82 | ||
A | 0.08 | 0.18 | |||
Q350H | 1050 | G | 1.0 | 0.99 | |
T | 0 | 0.01 | |||
T361A | 1081 | A | 0.93 | 0.88 | |
G | 0.07 | 0.12 |