基因名 突变
HCN3(NM_020897,hyperpolarization activated cyclic nucleotide-gated potassium channel 3,774aa) g.1:155255022G>A,c.1156G>A,p.E386K
HCN3(NM_020897,hyperpolarization activated cyclic nucleotide-gated potassium channel 3,774aa) g.1:155254411G>T,c.952G>T,p.A318S
HCN3(NM_020897,hyperpolarization activated cyclic nucleotide-gated potassium channel 3,774aa) g.1:155247587A>G,c.206A>G,p.K69R
HCN3(NM_020897,hyperpolarization activated cyclic nucleotide-gated potassium channel 3,774aa) g.1:155247518G>A,c.137G>A,p.R46K
HCN2(NM_001194,hyperpolarization activated cyclic nucleotide-gated potassium channel 2,889aa) g.19:615947_615955del,c.2143_2151del,p.715_717del
HCN2(NM_001194,hyperpolarization activated cyclic nucleotide-gated potassium channel 2,889aa) g.19:610401G>A,c.1580G>A,p.R527Q
HCN2(NM_001194,hyperpolarization activated cyclic nucleotide-gated potassium channel 2,889aa) g.19:590402G>A,c.457G>A,p.G153R
HCN2(NM_001194,hyperpolarization activated cyclic nucleotide-gated potassium channel 2,889aa) g.19:590172G>A,c.227G>A,p.R76H
HCN1(NM_021072,hyperpolarization activated cyclic nucleotide-gated potassium channel 1,890aa) g.5:45262660T>C,c.2036A>G,p.H679R
HCN1(NM_021072,hyperpolarization activated cyclic nucleotide-gated potassium channel 1,890aa) g.5:45262081G>A,c.2615C>T,p.S872F
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121366252G>T,c.202C>A,p.L68I
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121356062C>T,c.496G>A,p.D166N
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121354620G>A,c.653C>T,p.P218L
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121353254T>C,c.703A>G,p.T235A
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121353238G>A,c.719C>T,p.A240V
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121353154C>T,c.803G>A,p.R268Q
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121352005A>G,c.917T>C,p.V306A
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121351979C>T,c.943G>A,p.E315K
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121351338C>T,c.1081G>A,p.E361K
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121351315_121351316insGGCTCAGGCTCA,c.1103_1104insTGAGCCTGAGCC,p.368ins4aa
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121351257C>T,c.1162G>A,p.E388K
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121351215C>T,c.1204G>A,p.E402K
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121350966C>G,c.1306G>C,p.V436L
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121350802G>A,c.1352C>T,p.P451L
HCLS1(NM_005335,hematopoietic cell-specific Lyn substrate 1,486aa) g.3:121350797C>T,c.1357G>A,p.D453N
HCK(NM_001172132,hemopoietic cell kinase,506aa) g.20:30686858C>T,c.1238C>T,p.S413F
HCK(NM_001172132,hemopoietic cell kinase,506aa) g.20:30686806del,c.1187-1del,p.396Acceptordel
HCK(NM_001172132,hemopoietic cell kinase,506aa) g.20:30672286C>T,c.715C>T,p.R239W
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