基因名 突变
TCHH(NM_007113,trichohyalin,1943aa) g.1:152081108G>A,c.4585C>T,p.R1529W
TCHH(NM_007113,trichohyalin,1943aa) g.1:152081071C>T,c.4622G>A,p.R1541H
TCHH(NM_007113,trichohyalin,1943aa) g.1:152081047C>G,c.4646G>C,p.R1549P
TCHH(NM_007113,trichohyalin,1943aa) g.1:152080976T>G,c.4717A>C,p.S1573R
TCHH(NM_007113,trichohyalin,1943aa) g.1:152080820C>G,c.4873G>C,p.E1625Q
TCHH(NM_007113,trichohyalin,1943aa) g.1:152080589G>A,c.5104C>T,p.R1702C
TCHH(NM_007113,trichohyalin,1943aa) g.1:152080588C>G,c.5105G>C,p.R1702P
TCHH(NM_007113,trichohyalin,1943aa) g.1:152080512C>A,c.5181G>T,p.E1727D
TCHH(NM_007113,trichohyalin,1943aa) g.1:152080129T>G,c.5564A>C,p.E1855A
TCHH(NM_007113,trichohyalin,1943aa) g.1:152080105T>G,c.5588A>C,p.E1863A
TCHH(NM_007113,trichohyalin,1943aa) g.1:152079989T>G,c.5704A>C,p.K1902Q
TCHHL1(NM_001008536,trichohyalin-like 1,904aa) g.1:152060564G>C,c.56C>G,p.A19G
TCHHL1(NM_001008536,trichohyalin-like 1,904aa) g.1:152059809C>T,c.349G>A,p.G117R
TCHHL1(NM_001008536,trichohyalin-like 1,904aa) g.1:152059798C>G,c.360G>C,p.Q120H
TCHHL1(NM_001008536,trichohyalin-like 1,904aa) g.1:152059659T>A,c.499A>T,p.N167Y
TCHHL1(NM_001008536,trichohyalin-like 1,904aa) g.1:152059481C>T,c.677G>A,p.G226E
TCHHL1(NM_001008536,trichohyalin-like 1,904aa) g.1:152059461G>T,c.697C>A,p.Q233K
TCHHL1(NM_001008536,trichohyalin-like 1,904aa) g.1:152059319G>A,c.839C>T,p.T280I
TCHHL1(NM_001008536,trichohyalin-like 1,904aa) g.1:152059278G>A,c.880C>T,p.Q294X
TCHHL1(NM_001008536,trichohyalin-like 1,904aa) g.1:152058269C>T,c.1889G>A,p.R630K
TCHHL1(NM_001008536,trichohyalin-like 1,904aa) g.1:152058209T>C,c.1949A>G,p.N650S
TCHHL1(NM_001008536,trichohyalin-like 1,904aa) g.1:152058192G>A,c.1966C>T,p.Q656X
TCHHL1(NM_001008536,trichohyalin-like 1,904aa) g.1:152057852T>C,c.2306A>G,p.H769R
TCHHL1(NM_001008536,trichohyalin-like 1,904aa) g.1:152057793A>G,c.2365T>C,p.C789R
TCFL5(NM_006602,transcription factor-like 5 (basic helix-loop-helix),500aa) g.20:61491494T>C,c.814A>G,p.N272D
TCFL5(NM_006602,transcription factor-like 5 (basic helix-loop-helix),500aa) g.20:61488822_61488823insC,c.1162_1163insG,p.388fs
TCFL5(NM_006602,transcription factor-like 5 (basic helix-loop-helix),500aa) g.20:61485507C>T,c.1241G>A,p.R414H
TCF7(NM_001134851,transcription factor 7 (T-cell specific, HMG-box),269aa) g.5:133481467G>A,c.766G>A,p.G256R
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