Table 4. Frequency of significant mutations (>0.001) identified in patient samples.
GenomeRegion | nt Positiona | nt Change | AA Changeb,c | M100 | G100 | M101 | M102 | G101 | G102 | G103 | M103 | M104 | G104 | G105 | M105 | M106 | M107 | M108 | M109 | M110 | G106 | G107 | M111 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
5’UTR | 53 | A>T | 0.106 | 0.089 | 0.077 | 0.086 | 0.081 | 0.070 | 0.078 | 0.088 | 0.066 | 0.072 | 0.071 | 0.004 | 0.004 | 0.003 | 0.003 | 0.003 | 0.003 | 0.003 | 0.002 | 0.003 | |
nsp1 | 476 | T>A | C134S | 0.101 | 0.098 | 0.090 | 0.098 | 0.097 | 0.106 | 0.094 | 0.100 | 0.107 | 0.090 | 0.102 | 0.017 | 0.017 | 0.012 | 0.010 | 0.013 | 0.011 | 0.012 | 0.010 | 0.015 |
nsp1 | 479 | T>C | syn>L | 0.988 | 0.999 | 0.999 | 0.985 | 0.061 | 0.999 | 0.010 | 0.006 | ||||||||||||
nsp1 | 633 | A>C | N186T | 0.010 | 0.011 | 0.010 | 0.010 | 0.011 | 0.009 | 0.011 | 0.008 | 0.103 | 0.008 | 0.009 | 0.004 | 0.004 | 0.049 | 0.005 | 0.006 | 0.005 | 0.013 | 0.005 | 0.004 |
nsp1 | 667 | A>T | syn>T | 0.071 | 0.064 | 0.078 | 0.040 | 0.038 | 0.044 | 0.041 | 0.062 | 0.192 | 0.040 | 0.041 | 0.011 | 0.012 | 0.015 | 0.004 | 0.005 | 0.004 | 0.006 | 0.005 | 0.012 |
nsp1 | 734 | G>C | G220R | 0.127 | |||||||||||||||||||
nsp1 | 809 | T>G | S245A | 0.100 | 0.097 | 0.089 | 0.084 | 0.076 | 0.092 | 0.096 | 0.084 | 0.079 | 0.073 | 0.102 | 0.051 | 0.052 | 0.029 | 0.041 | 0.049 | 0.037 | 0.046 | 0.046 | 0.051 |
nsp1 | 864 | T>A | V263E | 0.113 | 0.009 | 0.019 | 0.016 | 0.007 | 0.005 | 0.001 | 0.001 | 0.003 | 0.001 | 0.004 | 0.002 | 0.002 | 0.002 | ||||||
nsp1 | 1112 | C>T | L346F | 0.120 | |||||||||||||||||||
nsp1 | 1525 | C>T | syn>Y | 0.994 | 0.995 | 0.996 | 0.107 | 0.995 | |||||||||||||||
nsp1 | 1527 | G>A | S484N | 0.100 | |||||||||||||||||||
nsp1 | 1571 | G>A | E499K | 0.188 | 0.004 | ||||||||||||||||||
nsp2 | 2008 | C>T | syn>H | 0.158 | |||||||||||||||||||
nsp2 | 2038 | G>A | syn>S | 0.002 | 0.971 | 0.002 | 0.981 | ||||||||||||||||
nsp2 | 2639 | A>T | I320F | 0.011 | 0.023 | 0.012 | 0.011 | 0.013 | 0.010 | 0.103 | 0.014 | 0.014 | 0.009 | 0.006 | 0.005 | 0.004 | 0.005 | 0.007 | 0.005 | 0.005 | |||
nsp2 | 2672 | C>T | R331C | 0.110 | 0.002 | 0.002 | |||||||||||||||||
nsp2 | 2716 | A>G | syn>T | 0.997 | 0.997 | 0.995 | 0.994 | 0.993 | 0.995 | 0.998 | 0.998 | 0.997 | 0.996 | 0.994 | 0.997 | 0.998 | 0.998 | 0.998 | 0.997 | 0.997 | 0.998 | 0.997 | 0.997 |
nsp2 | 2788 | T>A | syn>I | 0.123 | 0.094 | 0.133 | 0.098 | 0.073 | 0.087 | 0.090 | 0.022 | 0.021 | 0.021 | 0.014 | 0.012 | 0.017 | 0.014 | 0.013 | |||||
nsp2 | 2962 | T>C | syn>S | 0.999 | |||||||||||||||||||
nsp2 | 3063 | T>G | I461S | 0.065 | 0.058 | 0.052 | 0.053 | 0.119 | 0.069 | 0.018 | 0.018 | 0.017 | 0.022 | 0.017 | 0.017 | 0.022 | 0.018 | ||||||
nsp2 | 3196 | T>A | syn>A | 0.005 | 0.006 | 0.004 | 0.006 | 0.004 | 0.008 | 0.002 | 0.002 | 0.156 | 0.002 | 0.002 | 0.003 | 0.002 | 0.002 | ||||||
nsp2 | 3519 | T>A | V613E | 0.116 | 0.129 | 0.056 | 0.047 | 0.096 | 0.010 | 0.009 | 0.014 | 0.008 | 0.007 | 0.008 | 0.008 | ||||||||
nsp2 | 3591 | T>A | L637H | 0.002 | 0.003 | 0.004 | 0.005 | 0.001 | 0.002 | 0.002 | 0.002 | 0.131 | 0.001 | ||||||||||
nsp2 | 3996 | G>A | G772D | 0.504 | |||||||||||||||||||
nsp3 | 4219 | T>A | S48R | 0.031 | 0.032 | 0.037 | 0.037 | 0.028 | 0.033 | 0.038 | 0.160 | 0.180 | 0.036 | 0.006 | 0.005 | 0.006 | 0.006 | 0.003 | 0.007 | 0.005 | 0.006 | 0.005 | |
nsp3 | 4221 | C>T | A49V | 0.136 | 0.002 | ||||||||||||||||||
nsp3 | 4334 | G>A | A88T | 0.001 | 0.144 | ||||||||||||||||||
nsp3 | 4409 | G>C | G113R | 0.671 | |||||||||||||||||||
nsp3 | 4479 | C>T | T135M | 0.002 | 0.001 | 0.463 | |||||||||||||||||
nsp3 | 4507 | C>A | syn>R | 0.994 | 0.995 | 0.994 | 0.992 | 0.995 | 0.993 | 0.999 | 0.993 | 0.994 | 0.994 | 0.994 | 0.999 | 0.998 | 0.998 | 0.998 | 0.997 | 0.997 | 0.999 | 0.997 | 0.997 |
nsp3 | 4513 | A>G | syn>K | 1.000 | 0.999 | 0.999 | 0.999 | 0.998 | 1.000 | 0.999 | 0.998 | 0.999 | 0.999 | 0.999 | 0.999 | 0.999 | 0.999 | 0.999 | 0.999 | 0.999 | 1.000 | 0.999 | 0.999 |
nsp3 | 4605 | G>A | R178Q | 0.957 | 0.003 | 0.001 | |||||||||||||||||
nsp3 | 4606 | C>A | R178Q | 0.959 | |||||||||||||||||||
nsp3 | 4839 | C>T | S255F | 0.991 | |||||||||||||||||||
nsp3 | 4864 | T>A | syn>L | 0.021 | 0.015 | 0.015 | 0.008 | 0.020 | 0.018 | 0.011 | 0.017 | 0.004 | 0.002 | 0.003 | 0.003 | 0.004 | 0.005 | 0.999 | 0.089 | 0.003 | |||
nsp3 | 5090 | T>C | S340P | 0.987 | |||||||||||||||||||
nsp3 | 5151 | A>C | D359A | 0.047 | 0.033 | 0.061 | 0.093 | 0.058 | 0.122 | 0.195 | 0.045 | 0.066 | 0.055 | 0.021 | 0.054 | 0.039 | 0.023 | 0.033 | 0.026 | 0.029 | 0.027 | 0.031 | |
nsp3 | 5179 | A>C | E368D | 0.041 | 0.016 | 0.058 | 0.106 | 0.065 | 0.133 | 0.075 | 0.050 | 0.034 | 0.052 | 0.021 | 0.034 | 0.023 | 0.020 | 0.024 | 0.016 | 0.020 | 0.016 | 0.019 | |
nsp3 | 5190 | A>C | D359A | 0.031 | 0.017 | 0.041 | 0.080 | 0.045 | 0.114 | 0.017 | 0.039 | 0.043 | 0.043 | 0.022 | 0.034 | 0.022 | 0.019 | 0.025 | 0.016 | 0.017 | 0.017 | 0.019 | |
nsp3 | 5221 | T>A | syn>L | 0.075 | 0.063 | 0.105 | 0.071 | 0.074 | 0.039 | 0.068 | 0.067 | 0.075 | 0.063 | 0.006 | 0.005 | 0.007 | 0.005 | 0.005 | 0.005 | 0.004 | 0.005 | 0.006 | |
nsp3 | 5298 | T>A | V408E | 0.027 | 0.018 | 0.032 | 0.020 | 0.151 | 0.022 | 0.025 | 0.020 | 0.025 | 0.004 | 0.003 | 0.004 | 0.004 | 0.005 | 0.004 | 0.004 | 0.004 | 0.003 | ||
nsp3 | 5305 | T>A | C410Stop | 0.037 | 0.027 | 0.042 | 0.041 | 0.115 | 0.026 | 0.021 | 0.022 | 0.022 | 0.005 | 0.004 | 0.004 | 0.004 | 0.004 | 0.004 | 0.004 | 0.004 | 0.002 | ||
nsp3 | 5315 | G>A | E415K | 0.745 | |||||||||||||||||||
nsp3 | 5325 | T>A | I417K | 0.025 | 0.034 | 0.026 | 0.119 | 0.036 | 0.023 | 0.017 | 0.023 | 0.018 | 0.010 | 0.012 | 0.010 | 0.003 | 0.005 | 0.004 | 0.003 | 0.004 | 0.007 | ||
nsp3 | 5334 | T>A | M420K | 0.023 | 0.024 | 0.020 | 0.121 | 0.033 | 0.026 | 0.020 | 0.019 | 0.020 | 0.004 | 0.004 | 0.005 | 0.004 | 0.004 | 0.003 | 0.004 | 0.003 | 0.005 | ||
nsp3 | 5376 | T>C | V435A | 0.224 | 0.003 | ||||||||||||||||||
nsp3 | 5564 | C>T | syn>L | 0.227 | |||||||||||||||||||
nsp4 | 5999 | T>C | S116P | 0.008 | 0.008 | 0.001 | 0.001 | 0.065 | |||||||||||||||
nsp4 | 6075 | T>C | I141T | 0.004 | 0.105 | 0.017 | 0.002 | ||||||||||||||||
nsp4 | 6687 | T>C | L345P | 0.179 | |||||||||||||||||||
nsp4 | 6767 | A>C | I372L | 0.105 | |||||||||||||||||||
nsp4 | 6805 | G>A | syn>A | 0.078 | 0.086 | 0.076 | 0.057 | 0.060 | 0.017 | 0.120 | 0.065 | 0.004 | 0.002 | 0.001 | 0.001 | ||||||||
nsp4 | 6864 | T>C | I404T | 0.969 | |||||||||||||||||||
nsp4 | 6975 | T>A | L441Stop | 0.179 | |||||||||||||||||||
nsp4 | 7076 | T>G | S475A | 0.072 | 0.069 | 0.079 | 0.080 | 0.074 | 0.625 | 0.079 | 0.078 | 0.075 | 0.070 | 0.063 | 0.030 | 0.013 | 0.015 | 0.013 | 0.013 | 0.010 | 0.013 | 0.010 | 0.015 |
nsp4 | 7159 | T>C | syn>A | 0.063 | 0.051 | 0.063 | 0.100 | 0.078 | 0.090 | 0.062 | 0.076 | 0.082 | 0.090 | 0.017 | 0.016 | 0.020 | 0.015 | 0.020 | 0.015 | 0.014 | 0.018 | 0.012 | |
E3 | 8492 | A>G | Q52R | 0.143 | |||||||||||||||||||
E2 | 8892 | T>C | syn>I | 1.000 | 1.000 | 1.000 | 1.000 | 0.998 | 1.000 | 0.998 | 1.000 | ||||||||||||
E2 | 9690 | G>A | syn>G | 0.049 | 0.068 | 0.176 | 0.989 | 0.069 | 0.072 | 0.058 | |||||||||||||
E1 | 10335 | T>A | F118L | 0.097 | 0.114 | 0.084 | 0.115 | 0.106 | 0.090 | 0.091 | 0.114 | 0.096 | 0.014 | 0.012 | 0.014 | 0.012 | 0.014 | 0.011 | 0.010 | 0.011 | 0.015 | ||
E1 | 11046 | T>C | syn>S | 0.002 | 0.924 | ||||||||||||||||||
3UTR | 11302 | C>T | 0.984 | ||||||||||||||||||||
3UTR | 11311 | T>C | 0.979 | 0.001 | 0.997 | ||||||||||||||||||
3UTR | 11416 | T>A | 0.015 | 0.005 | 0.005 | 0.006 | 0.003 | 0.002 | 0.008 | 0.005 | 0.011 | 0.002 | 0.002 | 0.003 | 0.001 | 0.004 | 0.004 | 0.005 | 0.996 | 0.003 | 0.006 | ||
3UTR | 11525 | C>T | 0.412 | 0.016 | 0.003 | 0.006 | 0.004 | 0.464 | 0.004 | 0.474 | 0.021 | 0.018 | |||||||||||
3UTR | 11775 | C>T | 0.955 | 0.980 | 0.966 | 0.897 | 0.997 | 0.946 | 0.957 | 0.965 | 0.996 | 0.995 | 0.872 | 0.989 | 0.892 | 0.982 | 0.921 | ||||||
3UTR | 11776 | G>A | 0.995 | 0.997 | 0.990 | 0.977 | 0.997 | 0.993 | 0.997 | 0.993 | 0.997 | 0.997 | 0.890 | 0.996 | 0.916 | 0.994 | 0.946 | ||||||
3UTR | 11791 | C>T | 0.362 | 0.586 | 0.624 | 0.595 | 0.640 | 0.593 |
a nt = nucleotide
b AA = amino acid
c syn = synonymous
Bold print indicates five novel synonymous sequences changes. The table shows any mutation present above 0.1 in at least one individual, and any mutation above 0.001 found in more than one individual.