|
| Number | % age |
|
| DNA |
| DNA deletion (VariO:0141) | 489 | 21.16 |
| DNA indel (VariO:0143) | 25 | 1.08 |
| DNA insertion (VariO:0142) | 128 | 5.54 |
| DNA inversion | 2 | 0.09 |
| DNA substitution (VariO:0136), transition (VariO:0313), and purine transition (VariO:0315) | 540 | 23.37 |
| DNA substitution (VariO:0136), transition (VariO:0313), and pyrimidine transition (VariO:0314) | 544 | 23.54 |
| DNA substitution (VariO:0136), transversion (VariO:0316) | 583 | 25.23 |
| DNA substitution (total) | 1667 | 72.13 |
| Transition (total) | 1084 | 46.91 |
| Transversion (total) | 583 | 25.23 |
| RNA |
| - | 194 | 8.40 |
| Inframe deletion (VariO:0320) | 65 | 2.81 |
| Inframe deletion (VariO:0320), RNA splicing change (VariO:0334) | 24 | 1.04 |
| Inframe indel (VariO:0030) | 5 | 0.22 |
| Inframe insertion (VariO:0332) | 3 | 0.13 |
| Intron gain (VariO:0364), missing RNA (VariO:0245) | 1 | 0.04 |
| Missing RNA (VariO:0245) | 8 | 0.35 |
| Out-of-frame deletion (VariO:0321) | 17 | 0.74 |
| Out-of-frame deletion (VariO:0321), missing RNA (VariO:0245) | 294 | 12.73 |
| Out-of-frame deletion (VariO:0321), RNA splicing change (VariO:0334), and missing RNA (VariO:0245) | 14 | 0.61 |
| Out-of-frame indel (VariO:0031) | 1 | 0.04 |
| Out-of-frame indel (VariO:0031), missing RNA (VariO:0245) | 18 | 0.78 |
| Out-of-frame insertion (VariO:0327) | 648 | 28.05 |
| Out-of-frame insertion (VariO:0327), missing RNA (VariO:0245) | 97 | 4.20 |
| Out-of-frame insertion (VariO:0327), RNA splicing change (VariO:0334), and missing RNA (VariO:0245) | 7 | 0.30 |
| RNA splicing change (VariO:0334) | 17 | 0.74 |
| RNA splicing change (VariO:0334), missing RNA (VariO:0245) | 205 | 8.87 |
| RNA substitution (VariO:0312), nonsense variation (VariO:0310), and missing RNA (VariO:0245) | 361 | 15.63 |
| RNA substitution (VariO:0312), transition (VariO:0313), purine transition (VariO:0315), and missense variation (VariO:0308) | 309 | 13.38 |
| RNA substitution (VariO:0312), transition (VariO:0313), and pyrimidine transition (VariO:0314) | 3 | 0.13 |
| RNA substitution (VariO:0312), transition (VariO:0313), pyrimidine transition (VariO:0314), and missense variation (VariO:0308) | 317 | 13.72 |
| RNA substitution (VariO:0312), transversion (VariO:0316), initiation codon change (VariO:0317), and missing RNA (VariO:0245) | 18 | 0.78 |
| RNA substitution (VariO:0312), transversion (VariO:0316), and missense variation (VariO:0308) | 311 | 13.46 |
| RNA substitution (VariO:0312), transversion (VariO:0316), and nonsense variation (VariO:0310) | 13 | 0.56 |
| Unsense variation (VariO:0514) | 5 | 0.22 |
| In-frame deletion (total) | 84 | 3.64 |
| Out-of-frame deletion (total) | 325 | 14.07 |
| Out-of-frame indel (total) | 19 | 0.82 |
| Out-of-frame insertion (total) | 107 | 4.63 |
| RNA splicing change (total) | 62 | 2.68 |
| RNA substitution (total) | 1334 | 57.75 |
| Missing RNA (total) | 1333 | 57.71 |
| Transition | 628 | 27.19 |
| Transversion | | 0.00 |
| Nonsense (total) | 374 | 16.19 |
| Protein |
| - | 183 | 5.54 |
| Amino acid substitution (VariO:0021) | 935 | 0.09 |
| Amphigoric amino acid indel (VariO:0023) | 1 | 23.38 |
| Missing protein (VariO:0240) | 1058 | 23.55 |
| Protein truncation (VariO:0015) | 17 | 25.24 |
| Protein truncation (VariO:0015), amphigoric amino acid indel (VariO:0023) | 18 | 72.16 |
| Sequence retaining amino acid deletion (VariO:0016) | 79 | 46.93 |
| Sequence retaining amino acid indel (VariO:0029) | 19 | 25.24 |
| Sequence retaining amino acid insertion (VariO:0020) | 2 | 0.04 |
| Protein truncation (total) | 35 | 8.40 |
|
