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 |