基因名 |
突变 |
TEKT5(NM_144674,tektin 5,485aa) |
g.16:10783113A>G,c.716T>C,p.M239T |
TEKT5(NM_144674,tektin 5,485aa) |
g.16:10775985C>T,c.728G>A,p.R243Q |
TEKT5(NM_144674,tektin 5,485aa) |
g.16:10775949T>C,c.764A>G,p.D255G |
TEKT5(NM_144674,tektin 5,485aa) |
g.16:10775898G>A,c.815C>T,p.T272M |
TEKT5(NM_144674,tektin 5,485aa) |
g.16:10775857C>G,c.856G>C,p.D286H |
TEKT5(NM_144674,tektin 5,485aa) |
g.16:10769991T>C,c.911A>G,p.K304R |
TEKT5(NM_144674,tektin 5,485aa) |
g.16:10769958T>C,c.944A>G,p.Q315R |
TEKT5(NM_144674,tektin 5,485aa) |
g.16:10769943G>A,c.959C>T,p.A320V |
TEKT5(NM_144674,tektin 5,485aa) |
g.16:10769880G>A,c.1022C>T,p.A341V |
TEKT5(NM_144674,tektin 5,485aa) |
g.16:10729751C>G,c.1111G>C,p.E371Q |
TEKT5(NM_144674,tektin 5,485aa) |
g.16:10721553G>A,c.1345C>T,p.R449W |
TEKT5(NM_144674,tektin 5,485aa) |
g.16:10721484G>A,c.1414C>T,p.R472C |
TEKT5(NM_144674,tektin 5,485aa) |
g.16:10721483C>T,c.1415G>A,p.R472H |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95542476C>T,c.1270C>T,p.R424C |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95542433C>G,c.1227C>G,p.N409K |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95542419G>A,c.1213G>A,p.A405T |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95542417T>C,c.1211T>C,p.I404T |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95542416A>G,c.1210A>G,p.I404V |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95542378G>A,c.1172G>A,p.R391H |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95542377C>T,c.1171C>T,p.R391C |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95542363C>G,c.1157C>G,p.A386G |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95542345G>A,c.1139G>A,p.R380Q |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95542332C>A,c.1126C>A,p.L376I |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95542302T>G,c.1096T>G,p.L366V |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95542297G>A,c.1092-1G>A,p.364Acceptor |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95541471G>A,c.1075G>A,p.D359N |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95541468C>G,c.1072C>G,p.R358G |
TEKT4(NM_144705,tektin 4,435aa) |
g.2:95541447C>T,c.1051C>T,p.R351W |