基因名 突变
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10470758G>C,c.850C>G,p.P284A
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10470641C>T,c.967G>A,p.V323M
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10470601G>A,c.1007C>T,p.T336M
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10470470C>T,c.1138G>A,p.G380R
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10470413C>T,c.1195G>A,p.G399R
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10470230C>T,c.1378G>A,p.G460S
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10470148G>A,c.1460C>T,p.A487V
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10470068C>T,c.1540G>A,p.G514S
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10470055C>A,c.1553G>T,p.G518V
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10469454G>T,c.2154C>A,p.N718K
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10469339C>T,c.2269G>A,p.A757T
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10469233A>G,c.2375T>C,p.L792P
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10469167T>C,c.2441A>G,p.E814G
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10469092C>T,c.2516G>A,p.R839Q
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10469041G>A,c.2567C>T,p.P856L
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10469030G>A,c.2578C>T,p.R860W
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10468964G>A,c.2644C>T,p.R882W
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10468828G>T,c.2780C>A,p.T927N
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10468617G>C,c.2991C>G,p.D997E
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10468555G>T,c.3053C>A,p.P1018H
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10468376G>A,c.3232C>T,p.R1078W
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10468353G>C,c.3255C>G,p.I1085M
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10468345G>A,c.3263C>T,p.A1088V
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10468310C>T,c.3298G>A,p.V1100M
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10468172G>A,c.3436C>T,p.R1146W
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10468094G>T,c.3514C>A,p.L1172I
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10467653C>T,c.3955G>A,p.A1319T
RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) g.8:10467652G>C,c.3956C>G,p.A1319G
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