TABLE 3.
PDV | Contacts | |||
---|---|---|---|---|
Variant | Syndrome | Variant | Syndrome | Signif |
IS6A413E | LQT3 | IVS6N1774D | LQT3 | NP |
S | NS | S | BrS1 | NP |
T | A, LQT3,BrS1 | Y | NS | CIP |
IIIS6N1463K | NP | IIS5S835L | BrS1 | NP |
A | BrS1 | VUS | ||
IIIS6F1465L | LQT3 | IVS6I1768V | BrS1, LQT3 | P |
IIIS6I1469F | NP | IVS6I1768V | BrS1, LQT3 | P |
IVS6L1772P | BrS1 | VUS | ||
V | LQT3 | NP | ||
IVS6M1766I | CVP, BrS1 | IVS6G1661R | BrS1 | NP, CIP |
K | NP, BrS1, SSS | |||
V | BrS1 | |||
T | HCM | |||
L | LQT3 |
Contacts in the cryo-EM structure (Table 1) are not shown.