Mutations in 40 LQTS patients
| KCNQ1 | KCNH2 | SCN5A |
|---|---|---|
| *Compound heterozygous. | ||
| †Homozygous. | ||
| ‡In two patients. | ||
| §Both mutations in one patient. | ||
| M159sp* | C64Y | Q692K§ |
| G168R | L87P | A1330T |
| Y184S | G193 fs/136 | I1768V |
| R259C | L200 fs/144† | 1795insD |
| G292D* | 210insL, T216 fs/120 | |
| G314S | P251 fs/107 | |
| Y315S | R582C‡ | |
| S373P | G604S | |
| W379S | T613M | |
| R519C | V625E | |
| R562M§ | F640L | |
| M645L | ||
| S649L | ||
| E698X | ||
| R783 fs/24 | ||
| R863X | ||
| P872 fs/4 | ||