| 基因名 | 突变 |
|---|---|
| KCNJ16(NM_001270422,potassium inwardly-rectifying channel, subfamily J, member 16,418aa) | g.17:68128833G>A,c.605G>A,p.R202H |
| KCNJ16(NM_001270422,potassium inwardly-rectifying channel, subfamily J, member 16,418aa) | g.17:68128332G>A,c.104G>A,p.R35Q |
| KCNJ16(NM_001270422,potassium inwardly-rectifying channel, subfamily J, member 16,418aa) | g.17:68128290C>T,c.62C>T,p.P21L |
| KCNJ16(NM_001270422,potassium inwardly-rectifying channel, subfamily J, member 16,418aa) | g.17:68128259A>G,c.31A>G,p.I11V |
| KCNJ16(NM_001270422,potassium inwardly-rectifying channel, subfamily J, member 16,418aa) | g.17:68096908A>G,c.-400+1A>G,p.5'UTRDonor |
| KCNJ15(NM_170736,potassium inwardly-rectifying channel, subfamily J, member 15,375aa) | g.21:39671476G>A,c.293G>A,p.G98D |
| KCNJ15(NM_170736,potassium inwardly-rectifying channel, subfamily J, member 15,375aa) | g.21:39671475G>T,c.292G>T,p.G98C |
| KCNJ15(NM_170736,potassium inwardly-rectifying channel, subfamily J, member 15,375aa) | g.21:39671447C>T,c.264C>T,p.I88I |
| KCNJ15(NM_170736,potassium inwardly-rectifying channel, subfamily J, member 15,375aa) | g.21:39671271A>C,c.88A>C,p.M30L |
| KCNJ15(NM_170736,potassium inwardly-rectifying channel, subfamily J, member 15,375aa) | g.21:39671202G>A,c.19G>A,p.G7S |
| KCNJ15(NM_170736,potassium inwardly-rectifying channel, subfamily J, member 15,375aa) | g.21:39671199A>G,c.16A>G,p.I6V |
| KCNJ14(NM_013348,potassium inwardly-rectifying channel, subfamily J, member 14,436aa) | g.19:48968015C>T,c.1292C>T,p.A431V |
| KCNJ14(NM_013348,potassium inwardly-rectifying channel, subfamily J, member 14,436aa) | g.19:48967817A>C,c.1094A>C,p.E365A |
| KCNJ14(NM_013348,potassium inwardly-rectifying channel, subfamily J, member 14,436aa) | g.19:48967816G>A,c.1093G>A,p.E365K |
| KCNJ14(NM_013348,potassium inwardly-rectifying channel, subfamily J, member 14,436aa) | g.19:48967789C>A,c.1066C>A,p.P356T |
| KCNJ14(NM_013348,potassium inwardly-rectifying channel, subfamily J, member 14,436aa) | g.19:48967682A>G,c.959A>G,p.Y320C |
| KCNJ14(NM_013348,potassium inwardly-rectifying channel, subfamily J, member 14,436aa) | g.19:48967588C>T,c.865C>T,p.R289C |
| KCNJ14(NM_013348,potassium inwardly-rectifying channel, subfamily J, member 14,436aa) | g.19:48965063G>C,c.82G>C,p.G28R |
| KCNJ13(NM_002242,potassium inwardly-rectifying channel, subfamily J, member 13,360aa) | g.2:233633460G>A,c.524C>T,p.T175I |
| KCNJ11(NM_000525,potassium inwardly-rectifying channel, subfamily J, member 11,390aa) | g.11:17409572T>C,c.67A>G,p.K23E |
| KCNJ11(NM_000525,potassium inwardly-rectifying channel, subfamily J, member 11,390aa) | g.11:17409069G>A,c.570C>T,p.A190A |
| KCNJ11(NM_000525,potassium inwardly-rectifying channel, subfamily J, member 11,390aa) | g.11:17408838G>C,c.801C>G,p.L267L |
| KCNJ11(NM_000525,potassium inwardly-rectifying channel, subfamily J, member 11,390aa) | g.11:17408831G>C,c.808C>G,p.L270V |
| KCNJ11(NM_000525,potassium inwardly-rectifying channel, subfamily J, member 11,390aa) | g.11:17408796G>A,c.843C>T,p.L281L |
| KCNJ11(NM_000525,potassium inwardly-rectifying channel, subfamily J, member 11,390aa) | g.11:17408630C>T,c.1009G>A,p.V337I |
| KCNJ11(NM_000525,potassium inwardly-rectifying channel, subfamily J, member 11,390aa) | g.11:17408485G>C,c.1154C>G,p.S385C |
| KCNJ10(NM_002241,potassium inwardly-rectifying channel, subfamily J, member 10,379aa) | g.1:160012270C>T,c.53G>A,p.R18Q |
| KCNJ10(NM_002241,potassium inwardly-rectifying channel, subfamily J, member 10,379aa) | g.1:160012129C>G,c.194G>C,p.R65P |