Table 1.
Gene | Nucleotide Change | Amino Acid Change | Associated Phenotype | Refs. |
---|---|---|---|---|
CALM1 | c.389A>G | p.D130G | LQTS | [59,61] |
CALM1 | c.426C>G | p.F142L | LQTS | [59,61] |
CALM1 | c.161A>T | p.N54I | CPVT | [61,66] |
CALM1 | c.293A>G | p.N98S | LQTS, CPVT | [61,66] |
CALM1 | c.268T>C | p.F90L | IVF, SUD | [67,69] |
CALM1 | c.395A>T | p.D132V | LQTS | [64] |
CALM2 | c.293A>G | p.N98S | LQTS, SUD | [61,62,68] |
CALM2 | c.287A>T | p.D96V | LQTS | [59,61] |
CALM2 | c.293A>T | p.N98I | LQTS | [61,62] |
CALM2 | c.400G>C | p.D134H | LQTS | [38,39] |
CALM2 | c.389A>G | p.D130G | LQTS | [61] |
CALM2 | c.396T>G | p.D132E | LQTS, CPVT | [61,62] |
CALM2 | c.394G>C | p.D132H | LQTS | [64] |
CALM2 | c.407A>C | p.Q136P | LQTS, CPVT | [62] |
CALM3 | c.389A>G | p.D130G | LQTS | [61,63] |
CALM3 | c.308C>T | p.A103V | CPVT | [61] |
CALM3 | c.286G>C | p.D96H | LQTS | [61,65] |
CALM3 | c.426T>G | p.F142L | LQTS | [61,65] |