| 基因名 | 突变 |
|---|---|
| CACNG6(NM_145814,calcium channel, voltage-dependent, gamma subunit 6,260aa) | g.19:54515252G>A,c.592G>A,p.A198T |
| CACNG6(NM_145814,calcium channel, voltage-dependent, gamma subunit 6,260aa) | g.19:54501491A>G,c.332-2A>G,p.111Acceptor |
| CACNG5(NM_145811,calcium channel, voltage-dependent, gamma subunit 5,275aa) | g.17:64881182G>A,c.653G>A,p.R218H |
| CACNG5(NM_145811,calcium channel, voltage-dependent, gamma subunit 5,275aa) | g.17:64880659C>G,c.451C>G,p.L151V |
| CACNG5(NM_145811,calcium channel, voltage-dependent, gamma subunit 5,275aa) | g.17:64876770G>A,c.380G>A,p.R127Q |
| CACNG5(NM_145811,calcium channel, voltage-dependent, gamma subunit 5,275aa) | g.17:64876769C>T,c.379C>T,p.R127W |
| CACNG5(NM_145811,calcium channel, voltage-dependent, gamma subunit 5,275aa) | g.17:64873628C>T,c.178C>T,p.R60W |
| CACNG5(NM_145811,calcium channel, voltage-dependent, gamma subunit 5,275aa) | g.17:64873471G>C,c.21G>C,p.K7N |
| CACNG4(NM_014405,calcium channel, voltage-dependent, gamma subunit 4,327aa) | g.17:65026815T>C,c.679T>C,p.S227P |
| CACNG4(NM_014405,calcium channel, voltage-dependent, gamma subunit 4,327aa) | g.17:65026770G>C,c.634G>C,p.E212Q |
| CACNG3(NM_006539,calcium channel, voltage-dependent, gamma subunit 3,315aa) | g.16:24372736G>A,c.500G>A,p.R167H |
| CACNG1(NM_000727,calcium channel, voltage-dependent, gamma subunit 1,222aa) | g.17:65052304G>A,c.586G>A,p.G196S |
| CACNG1(NM_000727,calcium channel, voltage-dependent, gamma subunit 1,222aa) | g.17:65040990A>G,c.214A>G,p.I72V |
| CACNG1(NM_000727,calcium channel, voltage-dependent, gamma subunit 1,222aa) | g.17:65040805G>A,c.29G>A,p.R10H |
| CACNB3(NM_000725,calcium channel, voltage-dependent, beta 3 subunit,484aa) | g.12:49221495G>A,c.1268G>A,p.R423H |
| CACNB3(NM_000725,calcium channel, voltage-dependent, beta 3 subunit,484aa) | g.12:49221416C>T,c.1189C>T,p.R397W |
| CACNB3(NM_000725,calcium channel, voltage-dependent, beta 3 subunit,484aa) | g.12:49220275G>A,c.868G>A,p.V290I |
| CACNB3(NM_000725,calcium channel, voltage-dependent, beta 3 subunit,484aa) | g.12:49218496G>A,c.452G>A,p.R151H |
| CACNB3(NM_000725,calcium channel, voltage-dependent, beta 3 subunit,484aa) | g.12:49218490A>G,c.446A>G,p.N149S |
| CACNB3(NM_000725,calcium channel, voltage-dependent, beta 3 subunit,484aa) | g.12:49217211G>A,c.130G>A,p.V44I |
| CACNB3(NM_000725,calcium channel, voltage-dependent, beta 3 subunit,484aa) | g.12:49217152G>A,c.71G>A,p.R24H |
| CACNB2(NM_000724,calcium channel, voltage-dependent, beta 2 subunit,605aa) | g.10:18828635T>G,c.1800T>G,p.D600E |
| CACNB2(NM_000724,calcium channel, voltage-dependent, beta 2 subunit,605aa) | g.10:18828486C>G,c.1651C>G,p.R551G |
| CACNB2(NM_000724,calcium channel, voltage-dependent, beta 2 subunit,605aa) | g.10:18828340C>T,c.1505C>T,p.S502L |
| CACNB2(NM_000724,calcium channel, voltage-dependent, beta 2 subunit,605aa) | g.10:18828261C>T,c.1426C>T,p.R476C |
| CACNB2(NM_000724,calcium channel, voltage-dependent, beta 2 subunit,605aa) | g.10:18828186C>T,c.1351C>T,p.R451C |
| CACNB2(NM_000724,calcium channel, voltage-dependent, beta 2 subunit,605aa) | g.10:18828181C>T,c.1346C>T,p.T449I |
| CACNB2(NM_000724,calcium channel, voltage-dependent, beta 2 subunit,605aa) | g.10:18816566G>T,c.829G>T,p.V277L |