基因名 |
突变 |
TNNI1(NM_003281,troponin I type 1 (skeletal, slow),187aa) |
g.1:201379469G>A,c.551C>T,p.P184L |
TNMD(NM_022144,tenomodulin,317aa) |
g.X:99849306A>C,c.370A>C,p.T124P |
T(NM_003181,T, brachyury homolog (mouse),435aa) |
g.6:166579270C>T,c.530G>A,p.G177D |
T(NM_003181,T, brachyury homolog (mouse),435aa) |
g.6:166574346G>A,c.1013C>T,p.A338V |
T(NM_003181,T, brachyury homolog (mouse),435aa) |
g.6:166572045C>T,c.1066G>A,p.G356S |
T(NM_003181,T, brachyury homolog (mouse),435aa) |
g.6:166572005T>C,c.1106A>G,p.N369S |
TNKS(NM_003747,tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase,1327aa) |
g.8:9634229G>A,c.3967G>A,p.A1323T |
TNKS(NM_003747,tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase,1327aa) |
g.8:9622290A>G,c.3437A>G,p.N1146S |
TNKS(NM_003747,tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase,1327aa) |
g.8:9610060G>T,c.3077G>T,p.G1026V |
TNKS(NM_003747,tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase,1327aa) |
g.8:9567544del,c.1658del,p.553fs |
TNKS(NM_003747,tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase,1327aa) |
g.8:9567471G>A,c.1585G>A,p.A529T |
TNKS(NM_003747,tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase,1327aa) |
g.8:9565899C>G,c.1475C>G,p.S492C |
TNKS(NM_003747,tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase,1327aa) |
g.8:9537490G>T,c.1024G>T,p.A342S |
TNKS2(NM_025235,tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2,1166aa) |
g.10:93610999del,c.2721del,p.907fs |
TNKS2(NM_025235,tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2,1166aa) |
g.10:93593682C>T,c.1348C>T,p.R450C |
TNKS2(NM_025235,tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2,1166aa) |
g.10:93576924G>A,c.458G>A,p.R153Q |
TNKS2(NM_025235,tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2,1166aa) |
g.10:93572893A>G,c.353A>G,p.N118S |
TNKS1BP1(NM_033396,tankyrase 1 binding protein 1, 182kDa,1729aa) |
g.11:57089349G>C,c.11C>G,p.S4C |
TNKS1BP1(NM_033396,tankyrase 1 binding protein 1, 182kDa,1729aa) |
g.11:57087995G>A,c.286C>T,p.P96S |
TNKS1BP1(NM_033396,tankyrase 1 binding protein 1, 182kDa,1729aa) |
g.11:57087983C>G,c.298G>C,p.A100P |
TNKS1BP1(NM_033396,tankyrase 1 binding protein 1, 182kDa,1729aa) |
g.11:57087694C>T,c.587G>A,p.R196Q |
TNKS1BP1(NM_033396,tankyrase 1 binding protein 1, 182kDa,1729aa) |
g.11:57085348C>T,c.742G>A,p.D248N |
TNKS1BP1(NM_033396,tankyrase 1 binding protein 1, 182kDa,1729aa) |
g.11:57085333C>T,c.757G>A,p.G253R |
TNKS1BP1(NM_033396,tankyrase 1 binding protein 1, 182kDa,1729aa) |
g.11:57081197G>C,c.965C>G,p.T322S |
TNKS1BP1(NM_033396,tankyrase 1 binding protein 1, 182kDa,1729aa) |
g.11:57081165C>T,c.997G>A,p.A333T |
TNKS1BP1(NM_033396,tankyrase 1 binding protein 1, 182kDa,1729aa) |
g.11:57081146G>C,c.1016C>G,p.P339R |
TNKS1BP1(NM_033396,tankyrase 1 binding protein 1, 182kDa,1729aa) |
g.11:57081048G>C,c.1114C>G,p.P372A |
TNKS1BP1(NM_033396,tankyrase 1 binding protein 1, 182kDa,1729aa) |
g.11:57080957C>T,c.1205G>A,p.R402Q |