| 基因名 | 突变 |
|---|---|
| KCNJ10(NM_002241,potassium inwardly-rectifying channel, subfamily J, member 10,379aa) | g.1:160012018G>A,c.305C>T,p.P102L |
| KCNJ10(NM_002241,potassium inwardly-rectifying channel, subfamily J, member 10,379aa) | g.1:160011793T>C,c.530A>G,p.E177G |
| KCNJ10(NM_002241,potassium inwardly-rectifying channel, subfamily J, member 10,379aa) | g.1:160011512G>A,c.811C>T,p.R271C |
| KCNJ10(NM_002241,potassium inwardly-rectifying channel, subfamily J, member 10,379aa) | g.1:160011511C>T,c.812G>A,p.R271H |
| KCNJ10(NM_002241,potassium inwardly-rectifying channel, subfamily J, member 10,379aa) | g.1:160011281G>A,c.1042C>T,p.R348C |
| KCNIP4(NM_001035003,Kv channel interacting protein 4,225aa) | g.4:20852258C>T,c.121G>A,p.V41I |
| KCNIP4(NM_001035003,Kv channel interacting protein 4,225aa) | g.4:20731736C>T,c.647G>A,p.R216H |
| KCNIP3(NM_013434,Kv channel interacting protein 3, calsenilin,256aa) | g.2:95976203G>A,c.116G>A,p.R39H |
| KCNIP2(NM_014591,Kv channel interacting protein 2,285aa) | g.10:103589693C>G,c.176G>C,p.R59P |
| KCNIP2(NM_014591,Kv channel interacting protein 2,285aa) | g.10:103588903G>C,c.322C>G,p.L108V |
| KCNIP1(NM_001278340,Kv channel interacting protein 1,188aa) | g.5:170159894G>A,c.442G>A,p.D148N |
| KCNH8(NM_144633,potassium voltage-gated channel, subfamily H (eag-related), member 8,1107aa) | g.3:19575329C>T,c.3062C>T,p.T1021M |
| KCNH8(NM_144633,potassium voltage-gated channel, subfamily H (eag-related), member 8,1107aa) | g.3:19575296G>C,c.3029G>C,p.R1010T |
| KCNH8(NM_144633,potassium voltage-gated channel, subfamily H (eag-related), member 8,1107aa) | g.3:19575232C>T,c.2965C>T,p.P989S |
| KCNH8(NM_144633,potassium voltage-gated channel, subfamily H (eag-related), member 8,1107aa) | g.3:19574945A>G,c.2678A>G,p.Q893R |
| KCNH8(NM_144633,potassium voltage-gated channel, subfamily H (eag-related), member 8,1107aa) | g.3:19559510G>C,c.2563G>C,p.V855L |
| KCNH8(NM_144633,potassium voltage-gated channel, subfamily H (eag-related), member 8,1107aa) | g.3:19322783A>G,c.404A>G,p.D135G |
| KCNH8(NM_144633,potassium voltage-gated channel, subfamily H (eag-related), member 8,1107aa) | g.3:19295361A>G,c.292A>G,p.M98V |
| KCNH7(NM_033272,potassium voltage-gated channel, subfamily H (eag-related), member 7,1196aa) | g.2:163393500G>A,c.398C>T,p.T133M |
| KCNH7(NM_033272,potassium voltage-gated channel, subfamily H (eag-related), member 7,1196aa) | g.2:163393486C>T,c.412G>A,p.A138T |
| KCNH7(NM_033272,potassium voltage-gated channel, subfamily H (eag-related), member 7,1196aa) | g.2:163374395C>T,c.737G>A,p.R246Q |
| KCNH7(NM_033272,potassium voltage-gated channel, subfamily H (eag-related), member 7,1196aa) | g.2:163374269T>C,c.863A>G,p.N288S |
| KCNH7(NM_033272,potassium voltage-gated channel, subfamily H (eag-related), member 7,1196aa) | g.2:163361158T>A,c.923A>T,p.N308I |
| KCNH7(NM_033272,potassium voltage-gated channel, subfamily H (eag-related), member 7,1196aa) | g.2:163360961C>T,c.1120G>A,p.V374M |
| KCNH7(NM_033272,potassium voltage-gated channel, subfamily H (eag-related), member 7,1196aa) | g.2:163302626C>T,c.1456G>A,p.A486T |
| KCNH7(NM_033272,potassium voltage-gated channel, subfamily H (eag-related), member 7,1196aa) | g.2:163253257C>T,c.2606G>A,p.S869N |
| KCNH7(NM_033272,potassium voltage-gated channel, subfamily H (eag-related), member 7,1196aa) | g.2:163250969C>T,c.2640G>A,p.M880I |
| KCNH7(NM_033272,potassium voltage-gated channel, subfamily H (eag-related), member 7,1196aa) | g.2:163241287C>G,c.2873G>C,p.G958A |