基因名 突变
KCNH2(NM_000238,potassium voltage-gated channel, subfamily H (eag-related), member 2,1159aa) g.7:150645534T>G,c.2690A>C,p.K897T
KCNH2(NM_000238,potassium voltage-gated channel, subfamily H (eag-related), member 2,1159aa) g.7:150644888C>T,c.2771G>A,p.G924E
KCNH2(NM_000238,potassium voltage-gated channel, subfamily H (eag-related), member 2,1159aa) g.7:150644888C>G,c.2771G>C,p.G924A
KCNH2(NM_000238,potassium voltage-gated channel, subfamily H (eag-related), member 2,1159aa) g.7:150644718T>C,c.2941A>G,p.S981G
KCNH2(NM_000238,potassium voltage-gated channel, subfamily H (eag-related), member 2,1159aa) g.7:150644474G>A,c.3094C>T,p.R1032W
KCNH2(NM_000238,potassium voltage-gated channel, subfamily H (eag-related), member 2,1159aa) g.7:150644456C>T,c.3112G>A,p.V1038M
KCNH2(NM_000238,potassium voltage-gated channel, subfamily H (eag-related), member 2,1159aa) g.7:150644428C>A,c.3140G>T,p.R1047L
KCNH2(NM_000238,potassium voltage-gated channel, subfamily H (eag-related), member 2,1159aa) g.7:150644131C>T,c.3164G>A,p.R1055Q
KCNH2(NM_000238,potassium voltage-gated channel, subfamily H (eag-related), member 2,1159aa) g.7:150642503C>T,c.3430G>A,p.A1144T
KCNH1(NM_172362,potassium voltage-gated channel, subfamily H (eag-related), member 1,989aa) g.1:210948781C>T,c.2021G>A,p.R674Q
KCNH1(NM_172362,potassium voltage-gated channel, subfamily H (eag-related), member 1,989aa) g.1:210857138A>T,c.2455T>A,p.S819T
KCNH1(NM_172362,potassium voltage-gated channel, subfamily H (eag-related), member 1,989aa) g.1:210857116C>A,c.2477G>T,p.G826V
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84270841C>A,c.251G>T,p.R84L
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84270817C>T,c.275G>A,p.R92Q
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84270743G>A,c.349C>T,p.P117S
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84270674C>T,c.418G>A,p.A140T
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84270650C>T,c.442G>A,p.A148T
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84270565_84270566insCCAGCTCCT,c.526_527insAGGAGCTGG,p.176ins3aa
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84270476G>A,c.616C>T,p.R206W
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256619C>T,c.764G>A,p.C255Y
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256605A>G,c.778T>C,p.Y260H
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256578A>G,c.805T>C,p.C269R
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256422C>T,c.961G>A,p.E321K
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256410C>T,c.973G>A,p.G325R
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256331G>A,c.1052C>T,p.A351V
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256328C>T,c.1055G>A,p.R352H
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256293C>T,c.1090G>A,p.V364M
KCNG4(NM_172347,potassium voltage-gated channel, subfamily G, member 4,519aa) g.16:84256269C>T,c.1114G>A,p.G372S
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