Genes | Total number of distinct rare variants in each gene | Published | Novel | |
---|---|---|---|---|
Misssense variants predicted to be pathogenic in silico | Nonsense, frameshift or splice-site variants predicted to cause loss of function | |||
Genes associated with arrhythmogenic cardiomyopathy | ||||
DSC2 | 8 | 5 | 1 | |
DSG2 | 9 | 4 | ||
PKP2 | 6 | 3 | 1 | |
DSP | 16 | 2 | 8 | 1 |
JUP | 3 | 1 | ||
TMEM43 | 2 | 1 | ||
TGF-β3 | 0 | |||
Subtotal | 44 | 14 | 10 | 3 |
Genes associated with ion-channel disease | ||||
KCNQ1 | 4 | 1 | 1 | |
KCNH2 | 2 | |||
SCN5A | 9 | 1 | 5 | 1 |
KCNE1 | 2 | |||
KCNE2 | 0 | |||
KCNJ2 | 0 | |||
ANK2 | 18 | 3 | 2 | 1 |
CASQ2 | 2 | |||
CAV3 | 1 | 1 | ||
RYR2 | 12 | 1 | 2 | 4 |
Subtotal | 50 | 7 | 10 | 6 |
TOTAL | 94 | 21 | 20 | 9 |