基因名 突变
RALGPS1(NM_014636,Ral GEF with PH domain and SH3 binding motif 1,557aa) g.9:129937020G>A,c.869G>A,p.S290N
RALGPS1(NM_014636,Ral GEF with PH domain and SH3 binding motif 1,557aa) g.9:129796764G>A,c.271G>A,p.V91I
RALGPS1(NM_014636,Ral GEF with PH domain and SH3 binding motif 1,557aa) g.9:129728123G>T,c.58G>T,p.G20C
RALGDS(NM_006266,ral guanine nucleotide dissociation stimulator,914aa) g.9:135983712G>C,c.860C>G,p.P287R
RALGDS(NM_006266,ral guanine nucleotide dissociation stimulator,914aa) g.9:135983445C>T,c.1127G>A,p.S376N
RALGDS(NM_006266,ral guanine nucleotide dissociation stimulator,914aa) g.9:135978227C>T,c.1852G>A,p.A618T
RALGDS(NM_006266,ral guanine nucleotide dissociation stimulator,914aa) g.9:135978196C>T,c.1883G>A,p.R628Q
RALGDS(NM_006266,ral guanine nucleotide dissociation stimulator,914aa) g.9:135977942C>T,c.1930G>A,p.E644K
RALGDS(NM_006266,ral guanine nucleotide dissociation stimulator,914aa) g.9:135977873G>A,c.1999C>T,p.R667C
RALGDS(NM_006266,ral guanine nucleotide dissociation stimulator,914aa) g.9:135977399C>T,c.2137G>A,p.G713S
RALGDS(NM_006266,ral guanine nucleotide dissociation stimulator,914aa) g.9:135977366T>G,c.2170A>C,p.I724L
RALGDS(NM_006266,ral guanine nucleotide dissociation stimulator,914aa) g.9:135977061G>A,c.2300C>T,p.T767M
RALGAPB(NM_020336,Ral GTPase activating protein, beta subunit (non-catalytic),1494aa) g.20:37202908G>A,c.4258G>A,p.V1420M
RALGAPB(NM_020336,Ral GTPase activating protein, beta subunit (non-catalytic),1494aa) g.20:37202797A>G,c.4147A>G,p.T1383A
RALGAPB(NM_020336,Ral GTPase activating protein, beta subunit (non-catalytic),1494aa) g.20:37182601A>G,c.3254A>G,p.Q1085R
RALGAPB(NM_020336,Ral GTPase activating protein, beta subunit (non-catalytic),1494aa) g.20:37179783C>G,c.3079C>G,p.P1027A
RALGAPB(NM_020336,Ral GTPase activating protein, beta subunit (non-catalytic),1494aa) g.20:37154656C>T,c.2021C>T,p.T674M
RALGAPA2(NM_020343,Ral GTPase activating protein, alpha subunit 2 (catalytic),1873aa) g.20:20656923_20656925del,c.225_227del,p.75_76del
RALGAPA2(NM_020343,Ral GTPase activating protein, alpha subunit 2 (catalytic),1873aa) g.20:20634177T>C,c.325A>G,p.I109V
RALGAPA2(NM_020343,Ral GTPase activating protein, alpha subunit 2 (catalytic),1873aa) g.20:20620529T>C,c.566A>G,p.E189G
RALGAPA2(NM_020343,Ral GTPase activating protein, alpha subunit 2 (catalytic),1873aa) g.20:20610063G>A,c.1177C>T,p.R393W
RALGAPA2(NM_020343,Ral GTPase activating protein, alpha subunit 2 (catalytic),1873aa) g.20:20599985C>T,c.1475G>A,p.S492N
RALGAPA2(NM_020343,Ral GTPase activating protein, alpha subunit 2 (catalytic),1873aa) g.20:20592042T>A,c.1717A>T,p.I573L
RALGAPA2(NM_020343,Ral GTPase activating protein, alpha subunit 2 (catalytic),1873aa) g.20:20586043G>A,c.1814C>T,p.A605V
RALGAPA2(NM_020343,Ral GTPase activating protein, alpha subunit 2 (catalytic),1873aa) g.20:20585930T>C,c.1927A>G,p.I643V
RALGAPA2(NM_020343,Ral GTPase activating protein, alpha subunit 2 (catalytic),1873aa) g.20:20585894C>T,c.1963G>A,p.V655I
RALGAPA2(NM_020343,Ral GTPase activating protein, alpha subunit 2 (catalytic),1873aa) g.20:20582458C>T,c.2071G>A,p.V691M
RALGAPA2(NM_020343,Ral GTPase activating protein, alpha subunit 2 (catalytic),1873aa) g.20:20582370G>A,c.2159C>T,p.P720L
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