Genename Variants
RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) g.14:21792781G>T,c.1767G>T,p.Q589H
RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) g.14:21790040G>T,c.1639G>T,p.A547S
RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) g.14:21785998C>T,c.1295C>T,p.S432F
RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) g.14:21780617del,c.1103del,p.368fs
RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) g.14:21770730A>G,c.574A>G,p.K192E
RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) g.14:21769193C>A,c.287C>A,p.P96Q
RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) g.14:21762845T>A,c.95T>A,p.M32K
RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) g.14:21756212C>T,c.77C>T,p.A26V
RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) g.14:21756185T>C,c.50T>C,p.I17T
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53730122C>A,c.171G>T,p.L57F
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53726256C>T,c.251G>A,p.R84Q
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53720436C>T,c.685G>A,p.A229T
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53706849C>T,c.962G>A,p.R321H
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53698905G>A,c.1120C>T,p.H374Y
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53698869T>C,c.1156A>G,p.K386E
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53692703C>T,c.1331G>A,p.R444H
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53692694A>G,c.1340T>C,p.L447S
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53686660C>T,c.1939G>A,p.V647I
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53686639C>T,c.1960G>A,p.E654K
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53682949C>T,c.2231G>A,p.R744Q
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53682940C>T,c.2240G>A,p.R747Q
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53679821T>G,c.2399A>C,p.N800T
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53679577A>T,c.2643T>A,p.N881K
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53671754C>T,c.3073G>A,p.G1025S
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53671648G>A,c.3179C>T,p.S1060F
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53670426T>C,c.3221-2A>G,p.1074Acceptor
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53656135G>C,c.3428C>G,p.T1143S
RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) g.16:53653041C>T,c.3512G>A,p.R1171Q
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org