| Mutation type and basis of disease aetiology | |||||
---|---|---|---|---|---|---|
Mutation/ regulatory type | PCM state | DM | DP | FP | DFP | Total |
Coding sequence | Human | 5/5 | 38/43 | 11/11 | 17/18 | 71/77 |
 | Neanderthal | 0/0 | 1/1 | 0/0 | 0/0 | 1/1 |
 | Denisovan | 1/1 | 0/0 | 0/0 | 0/0 | 1/1 |
 | Ancient | 0/0 | 1/1 | 2/4 | 0/0 | 3/5 |
 | Chimpanzee | 4/4 | 7/8 | 2/4 | 0/0 | 13/16 |
 | Denisovan and chimpanzee | 3/3 | 4/5 | 0/0 | 0/0 | 7/8 |
 | Neanderthal and chimpanzee | 2/2 | 4/6 | 1/1 | 1/1 | 8/10 |
 | Others | 1/1 | 0/1 | 0/0 | 0/0 | 1/2 |
 | Total | 16/16 | 55/65 | 16/20 | 18/19 | 105/120 |
Regulatory | Human | 0 | 23 | 10 | 13 | 46 |
 | Neanderthal | 0 | 0 | 2 | 1 | 3 |
 | Denisovan | 0 | 0 | 0 | 3 | 3 |
 | Ancient | 0 | 2 | 0 | 1 | 3 |
 | Chimpanzee | 0 | 5 | 5 | 4 | 14 |
 | Denisovan and chimpanzee | 0 | 4 | 1 | 1 | 6 |
 | Neanderthal and chimpanzee | 0 | 1 | 1 | 0 | 2 |
 | Others | 0 | 0 | 0 | 1 | 1 |
 | Total | 0 | 35 | 19 | 24 | 78 |