Table 1.
Filter | Family A | Family B | Family C | Subject G |
---|---|---|---|---|
Not homozygous reference | 15,259 | 16,477 | 15,344 | 22,973 |
Missense/Nonsense/Splice Site/Indel | 6,499 | 6,998 | 6,538 | 9,220 |
Not in databases | 139 | 208 | 132 | 347 |
Not in control exomes | 7 | 23 | 2 | 103 |
RYR1 or CACNA1S variants | 1 | 1 | 1 | 1 |
The numbers in each column represent counts of individual exome variants among affected members in each family. The first row indicates the number of variants in each family that were high quality (>7x coverage), shared by affected members, and were different from the reference genome. In the lower rows, each cell lists the number of variants that remain after applying the indicated filter.
calcium channel, voltage-dependent, L type, α1S subunit gene = CACNA1S; insertion or deletion = indel; ryanodine receptor 1 gene =RYR1.