Table 1 KCNH gene variants identified in patients with CHD
From: Membrane potential drives the exit from pluripotency and cell fate commitment via calcium and mTOR
Blinded ID | Gene | Phenotype | Allele type | Class | AA change |
|---|---|---|---|---|---|
1-09347 | KCNH1 | CTD/Htx | LOF het | splice | . |
1-01004 | KCNH1 | CTD/Htx | LOF het | frameshift_deletion | p.G149fs |
1-05070 | KCNH3 | LVO | LOF het | stopgain | p.R139X |
1-07611 | KCNH3 | CTD | CmpHet | misD/misD | A911V/ S1021P |
1-01856 | KCNH3 | LVO | CmpHet | misD misD | A357T/ F542L |
1-05499 | KCNH3 | CTD | de novo | misD | p.E859D |
1-02696 | KCNH5 | Htx/TGA | de novo | misD | p.N817S |
1-05146 | KCNH6 | Htx | LOF het | stopgain | p.S858X |
1-07078 | KCNH6 | CTD | LOF het | stopgain | p.E587X |
1-02620 | KCNH6 | other | LOF het | stopgain | p.Q487X |
1-06077 | KCNH6 | Htx | LOF het | frameshift_insertion | p.S671fs |
1-02515 | KCNH6 | Htx | de novo | misD | p.T274M |
1-01783 | KCNH7 | LVO | LOF het | stopgain | p.Y1162X |
1-12888 | KCNH7 | CTD | LOF het | stopgain | p.E944X |
1-06600 | KCNH8 | Htx/TGA | LOF het | frameshift_deletion | p.D782fs |
1-06579 | KCNH8 | other | LOF het | stopgain | p.E576X |
