Table 4.
Exome | SNV calls | cSNVs | InDel calls | Missense | Truncating | Mutated genes | Common mutated genes |
---|---|---|---|---|---|---|---|
Miller Syndrome 1 | 18256 | 14744 | 391 | 6569 | 98 | 4213 | 2258 |
Miller Syndrome 2 | 17403 | 14438 | 381 | 6409 | 113 | 4096 | 2258 |
Miller Syndrome 3 | 18367 | 14907 | 428 | 6575 | 106 | 4210 | 2258 |
Miller Syndrome 4 | 17074 | 14166 | 373 | 6377 | 111 | 4059 | 2258 |
Freeman Sheldon 1 | 19957 | 15383 | 567 | 6891 | 139 | 4310 | 2314 |
Freeman Sheldon 2 | 18929 | 14730 | 502 | 6618 | 123 | 4151 | 2314 |
Freeman Sheldon 3 | 15125 | 12361 | 371 | 5485 | 112 | 3675 | 2314 |
Summary of variant calling results for four Miller syndrome exomes and three Freeman Sheldon syndrome exomes.