基因名 突变
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256130G>A,c.1253C>T,p.T418M
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256128C>T,c.1255G>A,p.V419M
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256103C>T,c.1280G>A,p.R427H
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256059C>T,c.1324G>A,p.G442R
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256006G>T,c.1377C>A,p.H459Q
KCNG2(NM_012283,potassium voltage-gated channel, subfamily G, member 2,466aa) g.18:77659746C>T,c.1331C>T,p.S444L
KCNG2(NM_012283,potassium voltage-gated channel, subfamily G, member 2,466aa) g.18:77659680C>T,c.1265C>T,p.A422V
KCNG2(NM_012283,potassium voltage-gated channel, subfamily G, member 2,466aa) g.18:77659370G>A,c.955G>A,p.A319T
KCNG2(NM_012283,potassium voltage-gated channel, subfamily G, member 2,466aa) g.18:77623711G>A,c.44G>A,p.R15H
KCNG2(NM_012283,potassium voltage-gated channel, subfamily G, member 2,466aa) g.18:77623691_77623692insGGC,c.24_25insGGC,p.8_9ins1aa
KCNF1(NM_002236,potassium voltage-gated channel, subfamily F, member 1,494aa) g.2:11053934C>G,c.1382C>G,p.A461G
KCNF1(NM_002236,potassium voltage-gated channel, subfamily F, member 1,494aa) g.2:11053922C>T,c.1370C>T,p.A457V
KCNE4(NM_080671,potassium voltage-gated channel, Isk-related family, member 4,221aa) g.2:223917983T>G,c.588T>G,p.D196E
KCNE4(NM_080671,potassium voltage-gated channel, Isk-related family, member 4,221aa) g.2:223917537G>C,c.142G>C,p.E48Q
KCNE4(NM_080671,potassium voltage-gated channel, Isk-related family, member 4,221aa) g.2:223916972T>C,c.110T>C,p.L37S
KCNE3(NM_005472,potassium voltage-gated channel, Isk-related family, member 3,103aa) g.11:74168599T>C,c.10A>G,p.T4A
KCNE3(NM_005472,potassium voltage-gated channel, Isk-related family, member 3,103aa) g.11:74168493G>C,c.116C>G,p.P39R
KCNE3(NM_005472,potassium voltage-gated channel, Isk-related family, member 3,103aa) g.11:74168411A>G,c.198T>C,p.F66F
KCNE3(NM_005472,potassium voltage-gated channel, Isk-related family, member 3,103aa) g.11:74168361C>T,c.248G>A,p.R83H
KCNE2(NM_172201,potassium voltage-gated channel, Isk-related family, member 2,123aa) g.21:35743123G>A,c.346G>A,p.A116T
KCNE2(NM_172201,potassium voltage-gated channel, Isk-related family, member 2,123aa) g.21:35742948T>G,c.171T>G,p.I57M
KCNE2(NM_172201,potassium voltage-gated channel, Isk-related family, member 2,123aa) g.21:35742947T>C,c.170T>C,p.I57T
KCNE2(NM_172201,potassium voltage-gated channel, Isk-related family, member 2,123aa) g.21:35742856C>T,c.79C>T,p.R27C
KCNE2(NM_172201,potassium voltage-gated channel, Isk-related family, member 2,123aa) g.21:35742799A>G,c.22A>G,p.T8A
KCNE1(NM_000219,potassium voltage-gated channel, Isk-related family, member 1,129aa) g.21:35821904G>A,c.29C>T,p.T10M
KCNE1(NM_000219,potassium voltage-gated channel, Isk-related family, member 1,129aa) g.21:35821838C>T,c.95G>A,p.R32H
KCNE1(NM_000219,potassium voltage-gated channel, Isk-related family, member 1,129aa) g.21:35821833A>G,c.100T>C,p.S34P
KCNE1(NM_000219,potassium voltage-gated channel, Isk-related family, member 1,129aa) g.21:35821826C>T,c.107G>A,p.R36H
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org