基因名 突变
GIMD1(NM_001195138,GIMAP family P-loop NTPase domain containing 1,217aa) g.4:107279386A>G,c.608T>C,p.M203T
GIMAP8(NM_175571,GTPase, IMAP family member 8,665aa) g.7:150174657G>A,c.1787G>A,p.R596Q
GIMAP8(NM_175571,GTPase, IMAP family member 8,665aa) g.7:150174635C>G,c.1765C>G,p.R589G
GIMAP8(NM_175571,GTPase, IMAP family member 8,665aa) g.7:150174633G>A,c.1763G>A,p.R588Q
GIMAP8(NM_175571,GTPase, IMAP family member 8,665aa) g.7:150174615C>G,c.1745C>G,p.S582X
GIMAP8(NM_175571,GTPase, IMAP family member 8,665aa) g.7:150174507C>G,c.1637C>G,p.A546G
GIMAP8(NM_175571,GTPase, IMAP family member 8,665aa) g.7:150174486A>C,c.1616A>C,p.E539A
GIMAP8(NM_175571,GTPase, IMAP family member 8,665aa) g.7:150174269C>T,c.1399C>T,p.R467W
GIMAP8(NM_175571,GTPase, IMAP family member 8,665aa) g.7:150171165G>A,c.748G>A,p.V250I
GIMAP7(NM_153236,GTPase, IMAP family member 7,300aa) g.7:150217871G>C,c.809G>C,p.R270T
GIMAP7(NM_153236,GTPase, IMAP family member 7,300aa) g.7:150217861G>A,c.799G>A,p.E267K
GIMAP7(NM_153236,GTPase, IMAP family member 7,300aa) g.7:150217735A>G,c.673A>G,p.T225A
GIMAP7(NM_153236,GTPase, IMAP family member 7,300aa) g.7:150217637T>C,c.575T>C,p.M192T
GIMAP7(NM_153236,GTPase, IMAP family member 7,300aa) g.7:150217309C>T,c.247C>T,p.R83C
GIMAP7(NM_153236,GTPase, IMAP family member 7,300aa) g.7:150217243G>T,c.181G>T,p.V61F
GIMAP7(NM_153236,GTPase, IMAP family member 7,300aa) g.7:150217081C>T,c.19C>T,p.R7C
GIMAP6(NM_001244072,GTPase, IMAP family member 6,362aa) g.7:150327195C>A,c.36G>T,p.E12D
GIMAP6(NM_001244072,GTPase, IMAP family member 6,362aa) g.7:150325728C>G,c.168G>C,p.Q56H
GIMAP6(NM_001244072,GTPase, IMAP family member 6,362aa) g.7:150325454T>C,c.442A>G,p.T148A
GIMAP6(NM_001244072,GTPase, IMAP family member 6,362aa) g.7:150325442G>A,c.454C>T,p.R152W
GIMAP6(NM_001244072,GTPase, IMAP family member 6,362aa) g.7:150325435C>T,c.461G>A,p.R154Q
GIMAP6(NM_001244072,GTPase, IMAP family member 6,362aa) g.7:150325372G>A,c.524C>T,p.S175L
GIMAP6(NM_001244072,GTPase, IMAP family member 6,362aa) g.7:150325286G>A,c.610C>T,p.R204W
GIMAP6(NM_001244072,GTPase, IMAP family member 6,362aa) g.7:150325279G>A,c.617C>T,p.T206M
GIMAP6(NM_001244072,GTPase, IMAP family member 6,362aa) g.7:150325253G>A,c.643C>T,p.R215C
GIMAP6(NM_001244072,GTPase, IMAP family member 6,362aa) g.7:150325177C>T,c.719G>A,p.G240D
GIMAP6(NM_001244072,GTPase, IMAP family member 6,362aa) g.7:150325175C>T,c.721G>A,p.G241S
GIMAP6(NM_001244072,GTPase, IMAP family member 6,362aa) g.7:150325153C>T,c.743G>A,p.R248Q
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