| 基因名 | 突变 |
|---|---|
| KCNQ1(NM_000218,potassium voltage-gated channel, KQT-like subfamily, member 1,676aa) | g.11:2608893C>G,c.1222C>G,p.P408A |
| KCNQ1(NM_000218,potassium voltage-gated channel, KQT-like subfamily, member 1,676aa) | g.11:2608850G>T,c.1179G>T,p.K393N |
| KCNQ1(NM_000218,potassium voltage-gated channel, KQT-like subfamily, member 1,676aa) | g.11:2606506G>A,c.1097G>A,p.R366Q |
| KCNQ1(NM_000218,potassium voltage-gated channel, KQT-like subfamily, member 1,676aa) | g.11:2604716G>A,c.973G>A,p.G325R |
| KCNQ1(NM_000218,potassium voltage-gated channel, KQT-like subfamily, member 1,676aa) | g.11:2591921C>T,c.541C>T,p.R181C |
| KCNQ1(NM_000218,potassium voltage-gated channel, KQT-like subfamily, member 1,676aa) | g.11:2591894G>A,c.514G>A,p.V172M |
| KCNN4(NM_002250,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4,427aa) | g.19:44284964C>T,c.50G>A,p.R17H |
| KCNN4(NM_002250,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4,427aa) | g.19:44280784G>A,c.164C>T,p.A55V |
| KCNN4(NM_002250,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4,427aa) | g.19:44273625G>T,c.1018C>A,p.H340N |
| KCNN4(NM_002250,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4,427aa) | g.19:44273595C>T,c.1048G>A,p.A350T |
| KCNN3(NM_001204087,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3,746aa) | g.1:154842200_154842202del,c.239_241del,p.80_81del |
| KCNN3(NM_001204087,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3,746aa) | g.1:154842199_154842200insGCT,c.241_242insAGC,p.81ins1aa |
| KCNN3(NM_001204087,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3,746aa) | g.1:154794649A>T,c.945T>A,p.F315L |
| KCNN3(NM_001204087,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3,746aa) | g.1:154680507A>G,c.2186T>C,p.I729T |
| KCNN2(NM_021614,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2,579aa) | g.5:113831835C>T,c.1696C>T,p.R566W |
| KCNN2(NM_021614,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2,579aa) | g.5:113831758T>C,c.1619T>C,p.I540T |
| KCNN2(NM_021614,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2,579aa) | g.5:113698631_113698632insGCC,c.159_160insGCC,p.53_54ins1aa |
| KCNN2(NM_021614,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2,579aa) | g.5:113698581C>T,c.109C>T,p.P37S |
| KCNN1(NM_002248,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1,543aa) | g.19:18109063G>A,c.1480G>A,p.A494T |
| KCNN1(NM_002248,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1,543aa) | g.19:18092701G>T,c.682G>T,p.V228L |
| KCNN1(NM_002248,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1,543aa) | g.19:18084899G>A,c.202G>A,p.D68N |
| KCNN1(NM_002248,potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1,543aa) | g.19:18084807C>T,c.110C>T,p.P37L |
| KCNMB3(NM_171829,potassium large conductance calcium-activated channel, subfamily M beta member 3,257aa) | g.3:178968660T>C,c.65A>G,p.D22G |
| KCNMB3(NM_171829,potassium large conductance calcium-activated channel, subfamily M beta member 3,257aa) | g.3:178968634C>T,c.91G>A,p.A31T |
| KCNMB3(NM_171829,potassium large conductance calcium-activated channel, subfamily M beta member 3,257aa) | g.3:178968568A>C,c.157T>G,p.L53V |
| KCNMB3(NM_171829,potassium large conductance calcium-activated channel, subfamily M beta member 3,257aa) | g.3:178961073C>G,c.394-1G>C,p.132Acceptor |
| KCNMB3(NM_171829,potassium large conductance calcium-activated channel, subfamily M beta member 3,257aa) | g.3:178961038T>C,c.428A>G,p.N143S |
| KCNMB3(NM_171829,potassium large conductance calcium-activated channel, subfamily M beta member 3,257aa) | g.3:178961025G>C,c.441C>G,p.N147K |