基因名 突变
TXK(NM_003328,TXK tyrosine kinase,527aa) g.4:48114517G>A,c.187C>T,p.R63C
TXK(NM_003328,TXK tyrosine kinase,527aa) g.4:48114477G>T,c.227C>A,p.P76Q
TXK(NM_003328,TXK tyrosine kinase,527aa) g.4:48097240C>A,c.502-1G>T,p.168Acceptor
TXK(NM_003328,TXK tyrosine kinase,527aa) g.4:48088540G>A,c.899C>T,p.A300V
TXK(NM_003328,TXK tyrosine kinase,527aa) g.4:48082095C>T,c.1007G>A,p.R336Q
TXK(NM_003328,TXK tyrosine kinase,527aa) g.4:48073560C>T,c.1489G>A,p.E497K
TWSG1(NM_020648,twisted gastrulation homolog 1 (Drosophila),223aa) g.18:9396524C>T,c.470C>T,p.A157V
TWSG1(NM_020648,twisted gastrulation homolog 1 (Drosophila),223aa) g.18:9359989C>T,c.143C>T,p.P48L
TWISTNB(NM_001002926,TWIST neighbor,338aa) g.7:19748587G>A,c.53C>T,p.S18F
TWISTNB(NM_001002926,TWIST neighbor,338aa) g.7:19739851C>T,c.449G>A,p.C150Y
TWISTNB(NM_001002926,TWIST neighbor,338aa) g.7:19739812G>C,c.488C>G,p.A163G
TWISTNB(NM_001002926,TWIST neighbor,338aa) g.7:19739781C>T,c.519G>A,p.M173I
TWIST1(NM_000474,twist basic helix-loop-helix transcription factor 1,202aa) g.7:19156643T>C,c.302A>G,p.Q101R
TWF2(NM_007284,twinfilin actin-binding protein 2,349aa) g.3:52269119G>A,c.29C>T,p.T10M
TWF2(NM_007284,twinfilin actin-binding protein 2,349aa) g.3:52269113T>C,c.35A>G,p.E12G
TWF2(NM_007284,twinfilin actin-binding protein 2,349aa) g.3:52269071C>T,c.77G>A,p.R26Q
TWF2(NM_007284,twinfilin actin-binding protein 2,349aa) g.3:52266028G>A,c.214C>T,p.R72C
TWF2(NM_007284,twinfilin actin-binding protein 2,349aa) g.3:52266015T>C,c.227A>G,p.Q76R
TWF2(NM_007284,twinfilin actin-binding protein 2,349aa) g.3:52263948G>A,c.748C>T,p.L250F
TWF2(NM_007284,twinfilin actin-binding protein 2,349aa) g.3:52263726C>T,c.833G>A,p.R278H
TWF1(NM_001242397,twinfilin actin-binding protein 1,357aa) g.12:44191212G>A,c.674C>T,p.T225I
TWF1(NM_001242397,twinfilin actin-binding protein 1,357aa) g.12:44191173T>C,c.713A>G,p.K238R
TVP23C(NM_001135036,trans-golgi network vesicle protein 23 homolog C (S. cerevisiae),203aa) g.17:15443742C>G,c.596G>C,p.S199T
TVP23C(NM_001135036,trans-golgi network vesicle protein 23 homolog C (S. cerevisiae),203aa) g.17:15443734A>G,c.604T>C,p.W202R
TVP23C-CDRT4(NM_001204478,TVP23C-CDRT4 readthrough,164aa) g.17:15458638G>T,c.53C>A,p.A18E
TVP23C-CDRT4(NM_001204478,TVP23C-CDRT4 readthrough,164aa) g.17:15457054A>G,c.185T>C,p.I62T
TVP23B(NM_016078,trans-golgi network vesicle protein 23 homolog B (S. cerevisiae),205aa) g.17:18707517C>T,c.529C>T,p.R177C
TVP23B(NM_016078,trans-golgi network vesicle protein 23 homolog B (S. cerevisiae),205aa) g.17:18694277G>A,c.164G>A,p.G55E
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