基因名 突变
OTOA(NM_144672,otoancorin,1139aa) g.16:21693073C>T,c.194C>T,p.T65M
OTOA(NM_144672,otoancorin,1139aa) g.16:21690240G>T,c.96G>T,p.L32F
OTOA(NM_144672,otoancorin,1139aa) g.16:21689879T>A,c.44T>A,p.F15Y
OTC(NM_000531,ornithine carbamoyltransferase,354aa) g.X:38268220A>G,c.809A>G,p.Q270R
OTC(NM_000531,ornithine carbamoyltransferase,354aa) g.X:38260623A>G,c.482A>G,p.N161S
OTC(NM_000531,ornithine carbamoyltransferase,354aa) g.X:38229102T>G,c.270T>G,p.S90R
OTC(NM_000531,ornithine carbamoyltransferase,354aa) g.X:38226614G>A,c.148G>A,p.G50R
OTC(NM_000531,ornithine carbamoyltransferase,354aa) g.X:38226603A>G,c.137A>G,p.K46R
OTC(NM_000531,ornithine carbamoyltransferase,354aa) g.X:38226549G>A,c.83G>A,p.G28E
OSTN(NM_198184,osteocrin,133aa) g.3:190936750G>A,c.317G>A,p.R106K
OSTN(NM_198184,osteocrin,133aa) g.3:190936638G>T,c.205G>T,p.V69L
OSTM1(NM_014028,osteopetrosis associated transmembrane protein 1,334aa) g.6:108395842G>A,c.14C>T,p.P5L
OSTM1(NM_014028,osteopetrosis associated transmembrane protein 1,334aa) g.6:108395722T>C,c.134A>G,p.D45G
OSTM1(NM_014028,osteopetrosis associated transmembrane protein 1,334aa) g.6:108395700C>G,c.156G>C,p.L52F
OSTM1(NM_014028,osteopetrosis associated transmembrane protein 1,334aa) g.6:108395635G>C,c.221C>G,p.P74R
OSTM1(NM_014028,osteopetrosis associated transmembrane protein 1,334aa) g.6:108385484C>T,c.422G>A,p.S141N
OSR2(NM_001142462,odd-skipped related 2 (Drosophila),312aa) g.8:99961359A>G,c.179A>G,p.N60S
OSR1(NM_145260,odd-skipped related 1 (Drosophila),266aa) g.2:19553121G>T,c.446C>A,p.A149D
OSR1(NM_145260,odd-skipped related 1 (Drosophila),266aa) g.2:19552913C>T,c.654G>A,p.L218L
OSR1(NM_145260,odd-skipped related 1 (Drosophila),266aa) g.2:19552065C>G,c.772G>C,p.E258Q
OSMR(NM_003999,oncostatin M receptor,979aa) g.5:38933482C>G,c.2876C>G,p.P959R
OSMR(NM_003999,oncostatin M receptor,979aa) g.5:38933455C>A,c.2849C>A,p.A950E
OSMR(NM_003999,oncostatin M receptor,979aa) g.5:38933412C>T,c.2806C>T,p.P936S
OSMR(NM_003999,oncostatin M receptor,979aa) g.5:38933253A>G,c.2647A>G,p.M883V
OSMR(NM_003999,oncostatin M receptor,979aa) g.5:38931988C>T,c.2216C>T,p.S739L
OSMR(NM_003999,oncostatin M receptor,979aa) g.5:38921864G>A,c.1733G>A,p.G578D
OSMR(NM_003999,oncostatin M receptor,979aa) g.5:38921788G>A,c.1657G>A,p.D553N
OSMR(NM_003999,oncostatin M receptor,979aa) g.5:38919158G>A,c.1579G>A,p.E527K
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