Table 1.
Distribution of identified sequence variants by mutation type. For each of the 11 genes, the size of the sequenced target (coding/non-coding) and the observed numbers of variants (substitutions (SNV)/indels (INDEL); coding/non-coding) in 280 EAs and 280 AAs are shown.
| Gene | Sequenced length (bp) | EA (N=280) | AA (N=280) | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
|
| ||||||||||
| SNV | INDEL | SNV | INDEL | |||||||
|
| ||||||||||
| Coding | Non-coding | Coding | Non-coding | Coding | Non-coding | Coding | Non-coding | Coding | Non-coding | |
| AGT | 2,584 | 6,490 | 5 | 59 | - | 1 | 9 | 113 | - | 1 |
| CYP11B1 | 3,535 | 4,129 | 14 | 52 | - | - | 27 | 86 | - | 1 |
| CYP17A1 | 1,870 | 3,237 | 6 | 19 | - | - | 7 | 30 | - | 0 |
| HSD11B2 | 1,884 | 4,909 | 5 | 52 | - | 4 | 8 | 63 | - | 9 |
| NR3C1 | 6,614 | 24,717 | 6 | 91 | - | 5 | 11 | 163 | - | 11 |
| NR3C2 | 5,898 | 23,483 | 8 | 325 | - | 29 | 13 | 494 | - | 54 |
| SCNN1A | 3,200 | 5,788 | 7 | 64 | - | 1 | 16 | 136 | - | 2 |
| SCNN1B | 2,597 | 3,947 | 9 | 63 | - | 1 | 9 | 109 | - | 2 |
| SCNN1G | 3,499 | 4,116 | 11 | 131 | - | 8 | 9 | 120 | - | 12 |
| WNK1 | 11,232 | 12,170 | 18 | 216 | 1 | 20 | 41 | 281 | - | 34 |
| WNK4 | 4,178 | 10,371 | 10 | 34 | - | 2 | 25 | 72 | - | 4 |
|
| ||||||||||
| Totals | 47,091 | 103,357 | 99 | 1,106 | 1 | 71 | 175 | 1,667 | - | 130 |
|
| ||||||||||
| 150,448 | 1,205 | 72 | 1,842 | 130 | ||||||
|
| ||||||||||
| 1,277 | 1,972 | |||||||||