基因名 |
突变 |
TTYH1(NM_001201461,tweety family member 1,451aa) |
g.19:54930443G>A,c.268G>A,p.V90I |
TTR(NM_000371,transthyretin,147aa) |
g.18:29178610C>T,c.416C>T,p.T139M |
TTR(NM_000371,transthyretin,147aa) |
g.18:29178607C>A,c.413C>A,p.T138N |
TTR(NM_000371,transthyretin,147aa) |
g.18:29178594T>C,c.400T>C,p.Y134H |
TTR(NM_000371,transthyretin,147aa) |
g.18:29178565G>A,c.371G>A,p.R124H |
TTR(NM_000371,transthyretin,147aa) |
g.18:29178552T>C,c.358T>C,p.S120P |
TTR(NM_000371,transthyretin,147aa) |
g.18:29178549G>A,c.355G>A,p.D119N |
TTR(NM_000371,transthyretin,147aa) |
g.18:29178548C>A,c.354C>A,p.N118K |
TTR(NM_000371,transthyretin,147aa) |
g.18:29178544C>G,c.350C>G,p.A117G |
TTR(NM_000371,transthyretin,147aa) |
g.18:29172865G>A,c.76G>A,p.G26S |
TTPA(NM_000370,tocopherol (alpha) transfer protein,278aa) |
g.8:63978563C>T,c.452G>A,p.R151Q |
TTPA(NM_000370,tocopherol (alpha) transfer protein,278aa) |
g.8:63978464G>A,c.551C>T,p.T184M |
TTPA(NM_000370,tocopherol (alpha) transfer protein,278aa) |
g.8:63976853C>T,c.575G>A,p.R192H |
TTPAL(NM_024331,tocopherol (alpha) transfer protein-like,342aa) |
g.20:43118148G>A,c.995G>A,p.R332Q |
TTN(NM_001267550,titin,35991aa) |
g.2:179669327C>T,c.43G>A,p.V15I |
TTN(NM_001267550,titin,35991aa) |
g.2:179666982C>A,c.178G>T,p.D60Y |
TTN(NM_001267550,titin,35991aa) |
g.2:179666871C>T,c.289G>A,p.V97M |
TTN(NM_001267550,titin,35991aa) |
g.2:179665163C>T,c.542G>A,p.S181N |
TTN(NM_001267550,titin,35991aa) |
g.2:179659912G>A,c.982C>T,p.R328C |
TTN(NM_001267550,titin,35991aa) |
g.2:179659815C>G,c.1079G>C,p.R360T |
TTN(NM_001267550,titin,35991aa) |
g.2:179659681C>T,c.1213G>A,p.A405T |
TTN(NM_001267550,titin,35991aa) |
g.2:179659191C>T,c.1333G>A,p.A445T |
TTN(NM_001267550,titin,35991aa) |
g.2:179659160G>A,c.1364C>T,p.T455M |
TTN(NM_001267550,titin,35991aa) |
g.2:179658220C>T,c.1447G>A,p.A483T |
TTN(NM_001267550,titin,35991aa) |
g.2:179658175C>T,c.1492G>A,p.V498I |
TTN(NM_001267550,titin,35991aa) |
g.2:179656876C>T,c.1585G>A,p.A529T |
TTN(NM_001267550,titin,35991aa) |
g.2:179655526G>A,c.1709C>T,p.A570V |
TTN(NM_001267550,titin,35991aa) |
g.2:179654748C>T,c.1895G>A,p.G632D |