Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework

Table 5

Using InterVal to analysis large fragment deletion.

Genome AD	Chr	dbSNP	Gene	Variant	Functional study
—	—	—	DES	Deletion-insertion mutation (c.1045-1063 del/G ins), deleting 7 amino acids (Met349-Arg355) and inserting 1 amino acid (Gly349)	—