基因名 突变
INSR(NM_000208,insulin receptor,1382aa) g.19:7150532G>A,c.2243C>T,p.S748L
INSR(NM_000208,insulin receptor,1382aa) g.19:7141798T>C,c.2572A>G,p.T858A
INSR(NM_000208,insulin receptor,1382aa) g.19:7141704C>T,c.2666G>A,p.R889Q
INSR(NM_000208,insulin receptor,1382aa) g.19:7132313C>T,c.2698G>A,p.V900I
INSR(NM_000208,insulin receptor,1382aa) g.19:7132173G>C,c.2838C>G,p.D946E
INSR(NM_000208,insulin receptor,1382aa) g.19:7128960C>T,c.2848G>A,p.V950I
INSR(NM_000208,insulin receptor,1382aa) g.19:7125518C>T,c.3034G>A,p.V1012M
INSR(NM_000208,insulin receptor,1382aa) g.19:7125409C>T,c.3143G>A,p.G1048D
INSR(NM_000208,insulin receptor,1382aa) g.19:7125297G>A,c.3255C>T,p.H1085H
INSR(NM_000208,insulin receptor,1382aa) g.19:7122771C>T,c.3383G>A,p.R1128H
INSR(NM_000208,insulin receptor,1382aa) g.19:7122682G>A,c.3472C>T,p.R1158W
INSR(NM_000208,insulin receptor,1382aa) g.19:7117259C>T,c.3957G>A,p.M1319I
INS(NM_001185098,insulin,110aa) g.11:2182135C>T,c.67G>A,p.A23T
INSM2(NM_032594,insulinoma-associated 2,566aa) g.14:36005025C>A,c.1567C>A,p.Q523K
INSM2(NM_032594,insulinoma-associated 2,566aa) g.14:36004822C>G,c.1364C>G,p.A455G
INSM2(NM_032594,insulinoma-associated 2,566aa) g.14:36004644C>A,c.1186C>A,p.P396T
INSM2(NM_032594,insulinoma-associated 2,566aa) g.14:36004217G>T,c.759G>T,p.L253F
INSM2(NM_032594,insulinoma-associated 2,566aa) g.14:36004075A>G,c.617A>G,p.D206G
INSM2(NM_032594,insulinoma-associated 2,566aa) g.14:36003618C>T,c.160C>T,p.P54S
INSM2(NM_032594,insulinoma-associated 2,566aa) g.14:36003576G>A,c.118G>A,p.E40K
INSM1(NM_002196,insulinoma-associated 1,510aa) g.20:20350196G>T,c.1285G>T,p.A429S
INSM1(NM_002196,insulinoma-associated 1,510aa) g.20:20349555T>G,c.644T>G,p.V215G
INSL6(NM_007179,insulin-like 6,213aa) g.9:5185374G>C,c.229C>G,p.P77A
INSL6(NM_007179,insulin-like 6,213aa) g.9:5185365A>G,c.238T>C,p.F80L
INSL6(NM_007179,insulin-like 6,213aa) g.9:5164260T>G,c.295A>C,p.T99P
INSL6(NM_007179,insulin-like 6,213aa) g.9:5164260T>C,c.295A>G,p.T99A
INSL6(NM_007179,insulin-like 6,213aa) g.9:5164151T>C,c.404A>G,p.H135R
INSL6(NM_007179,insulin-like 6,213aa) g.9:5164066C>T,c.489G>A,p.W163X
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