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. Author manuscript; available in PMC: 2014 Nov 1.
Published in final edited form as: Anesthesiology. 2013 Nov;119(5):1054–1065. doi: 10.1097/ALN.0b013e3182a8a998

Table 1.

Identifying Likely Pathologic Variants in Malignant Hyperthermia Families

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.