基因名 |
突变 |
TPH2(NM_173353,tryptophan hydroxylase 2,490aa) |
g.12:72416235A>T,c.1125A>T,p.A375A |
TPH2(NM_173353,tryptophan hydroxylase 2,490aa) |
g.12:72372862A>G,c.936A>G,p.P312P |
TPH2(NM_173353,tryptophan hydroxylase 2,490aa) |
g.12:72366364G>A,c.674G>A,p.R225Q |
TPH2(NM_173353,tryptophan hydroxylase 2,490aa) |
g.12:72366306C>T,c.616C>T,p.P206S |
TPH2(NM_173353,tryptophan hydroxylase 2,490aa) |
g.12:72335380C>A,c.122C>A,p.S41Y |
TPH1(NM_004179,tryptophan hydroxylase 1,444aa) |
g.11:18057655C>T,c.152G>A,p.R51Q |
TPH1(NM_004179,tryptophan hydroxylase 1,444aa) |
g.11:18051099G>A,c.430C>T,p.R144C |
TPH1(NM_004179,tryptophan hydroxylase 1,444aa) |
g.11:18050850C>T,c.529G>A,p.V177I |
TPH1(NM_004179,tryptophan hydroxylase 1,444aa) |
g.11:18048169C>T,c.671G>A,p.R224H |
TPH1(NM_004179,tryptophan hydroxylase 1,444aa) |
g.11:18048098G>A,c.742C>T,p.R248X |
TPH1(NM_004179,tryptophan hydroxylase 1,444aa) |
g.11:18047232G>T,c.820C>A,p.L274I |
TPH1(NM_004179,tryptophan hydroxylase 1,444aa) |
g.11:18047123G>A,c.929C>T,p.T310M |
TPH1(NM_004179,tryptophan hydroxylase 1,444aa) |
g.11:18045440G>A,c.1021C>T,p.L341F |
TPH1(NM_004179,tryptophan hydroxylase 1,444aa) |
g.11:18042597G>A,c.1276C>T,p.H426Y |
TPGS2(NM_015476,tubulin polyglutamylase complex subunit 2,300aa) |
g.18:34398883G>A,c.139C>T,p.R47C |
TPGS2(NM_015476,tubulin polyglutamylase complex subunit 2,300aa) |
g.18:34385349C>T,c.370G>A,p.D124N |
TPGS2(NM_015476,tubulin polyglutamylase complex subunit 2,300aa) |
g.18:34380260G>T,c.397C>A,p.P133T |
TPGS2(NM_015476,tubulin polyglutamylase complex subunit 2,300aa) |
g.18:34378544G>T,c.525C>A,p.F175L |
TPGS2(NM_015476,tubulin polyglutamylase complex subunit 2,300aa) |
g.18:34376830C>T,c.841G>A,p.G281S |
TPGS2(NM_015476,tubulin polyglutamylase complex subunit 2,300aa) |
g.18:34376775C>T,c.896G>A,p.R299Q |
TPGS1(NM_033513,tubulin polyglutamylase complex subunit 1,290aa) |
g.19:519274G>A,c.724G>A,p.E242K |
TPGS1(NM_033513,tubulin polyglutamylase complex subunit 1,290aa) |
g.19:518957C>A,c.407C>A,p.P136Q |
TPGS1(NM_033513,tubulin polyglutamylase complex subunit 1,290aa) |
g.19:507834C>T,c.328C>T,p.H110Y |
TPD52(NM_001025252,tumor protein D52,224aa) |
g.8:80992664A>G,c.25T>C,p.Y9H |
TPD52(NM_001025252,tumor protein D52,224aa) |
g.8:80976814C>A,c.154G>T,p.D52Y |
TPD52(NM_001025252,tumor protein D52,224aa) |
g.8:80976802C>T,c.166G>A,p.E56K |
TPD52L3(NM_033516,tumor protein D52-like 3,140aa) |
g.9:6329011del,c.416del,p.139fs |
TPD52L3(NM_033516,tumor protein D52-like 3,140aa) |
g.9:6328996G>A,c.401G>A,p.G134E |