| 基因名 | 突变 |
|---|---|
| KCNA10(NM_005549,potassium voltage-gated channel, shaker-related subfamily, member 10,511aa) | g.1:111060379C>T,c.1031G>A,p.R344H |
| KCNA10(NM_005549,potassium voltage-gated channel, shaker-related subfamily, member 10,511aa) | g.1:111060122T>C,c.1288A>G,p.T430A |
| KCMF1(NM_020122,potassium channel modulatory factor 1,381aa) | g.2:85280297C>T,c.911C>T,p.T304M |
| KCMF1(NM_020122,potassium channel modulatory factor 1,381aa) | g.2:85262220C>T,c.266C>T,p.T89M |
| KBTBD8(NM_032505,kelch repeat and BTB (POZ) domain containing 8,601aa) | g.3:67058769T>C,c.1766T>C,p.V589A |
| KBTBD8(NM_032505,kelch repeat and BTB (POZ) domain containing 8,601aa) | g.3:67054649T>C,c.1258T>C,p.C420R |
| KBTBD8(NM_032505,kelch repeat and BTB (POZ) domain containing 8,601aa) | g.3:67053926T>C,c.535T>C,p.F179L |
| KBTBD8(NM_032505,kelch repeat and BTB (POZ) domain containing 8,601aa) | g.3:67053849T>C,c.458T>C,p.I153T |
| KBTBD7(NM_032138,kelch repeat and BTB (POZ) domain containing 7,684aa) | g.13:41767589G>A,c.805C>T,p.H269Y |
| KBTBD7(NM_032138,kelch repeat and BTB (POZ) domain containing 7,684aa) | g.13:41767306G>A,c.1088C>T,p.S363L |
| KBTBD7(NM_032138,kelch repeat and BTB (POZ) domain containing 7,684aa) | g.13:41766866G>C,c.1528C>G,p.L510V |
| KBTBD6(NM_152903,kelch repeat and BTB (POZ) domain containing 6,674aa) | g.13:41706628G>A,c.20C>T,p.A7V |
| KBTBD4(NM_016506,kelch repeat and BTB (POZ) domain containing 4,518aa) | g.11:47599322T>C,c.230A>G,p.N77S |
| KBTBD4(NM_016506,kelch repeat and BTB (POZ) domain containing 4,518aa) | g.11:47594541C>T,c.1498G>A,p.V500I |
| KBTBD3(NM_198439,kelch repeat and BTB (POZ) domain containing 3,612aa) | g.11:105924869A>C,c.547T>G,p.L183V |
| KBTBD3(NM_198439,kelch repeat and BTB (POZ) domain containing 3,612aa) | g.11:105923810A>T,c.1606T>A,p.S536T |
| KBTBD2(NM_015483,kelch repeat and BTB (POZ) domain containing 2,623aa) | g.7:32910393C>G,c.436G>C,p.E146Q |
| KBTBD2(NM_015483,kelch repeat and BTB (POZ) domain containing 2,623aa) | g.7:32909934A>G,c.895T>C,p.C299R |
| KBTBD2(NM_015483,kelch repeat and BTB (POZ) domain containing 2,623aa) | g.7:32909261G>A,c.1568C>T,p.P523L |
| KBTBD13(NM_001101362,kelch repeat and BTB (POZ) domain containing 13,458aa) | g.15:65370111G>T,c.958G>T,p.V320L |
| KBTBD13(NM_001101362,kelch repeat and BTB (POZ) domain containing 13,458aa) | g.15:65369997G>A,c.844G>A,p.A282T |
| KBTBD13(NM_001101362,kelch repeat and BTB (POZ) domain containing 13,458aa) | g.15:65369947G>A,c.794G>A,p.G265D |
| KBTBD13(NM_001101362,kelch repeat and BTB (POZ) domain containing 13,458aa) | g.15:65369669C>G,c.516C>G,p.D172E |
| KBTBD13(NM_001101362,kelch repeat and BTB (POZ) domain containing 13,458aa) | g.15:65369514G>A,c.361G>A,p.V121M |
| KBTBD13(NM_001101362,kelch repeat and BTB (POZ) domain containing 13,458aa) | g.15:65369395C>T,c.242C>T,p.A81V |
| KBTBD13(NM_001101362,kelch repeat and BTB (POZ) domain containing 13,458aa) | g.15:65369268G>C,c.115G>C,p.G39R |
| KBTBD13(NM_001101362,kelch repeat and BTB (POZ) domain containing 13,458aa) | g.15:65369242G>A,c.89G>A,p.G30D |
| KBTBD12(NM_207335,kelch repeat and BTB (POZ) domain containing 12,623aa) | g.3:127703051T>C,c.1802T>C,p.V601A |