基因名 |
突变 |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31019016G>A,c.1168G>A,p.G390R |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31019001A>T,c.1153A>T,p.M385L |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31018975T>C,c.1127T>C,p.L376S |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31013419C>T,c.1043C>T,p.S348F |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31013374C>T,c.998C>T,p.T333M |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31011691C>T,c.857C>T,p.A286V |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31011689T>A,c.855T>A,p.N285K |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31011643C>T,c.809C>T,p.A270V |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31011610G>C,c.776G>C,p.R259P |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31011387G>A,c.680G>A,p.R227Q |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31011350C>T,c.643C>T,p.R215W |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31011330G>A,c.623G>A,p.R208H |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31010455G>A,c.547G>A,p.V183M |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31010431G>A,c.523G>A,p.V175M |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31010417G>A,c.509G>A,p.R170Q |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31010408A>T,c.500A>T,p.H167L |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31009026A>G,c.424A>G,p.I142V |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31008867T>C,c.265T>C,p.F89L |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31007023A>T,c.230A>T,p.K77M |
TCN2(NM_000355,transcobalamin II,427aa) |
g.22:31006860A>G,c.67A>G,p.I23V |
TCN1(NM_001062,transcobalamin I (vitamin B12 binding protein, R binder family),433aa) |
g.11:59631535C>T,c.104G>A,p.R35H |
TCN1(NM_001062,transcobalamin I (vitamin B12 binding protein, R binder family),433aa) |
g.11:59631479C>T,c.160G>A,p.A54T |
TCN1(NM_001062,transcobalamin I (vitamin B12 binding protein, R binder family),433aa) |
g.11:59631467del,c.172del,p.58fs |
TCN1(NM_001062,transcobalamin I (vitamin B12 binding protein, R binder family),433aa) |
g.11:59631425T>A,c.214A>T,p.M72L |
TCN1(NM_001062,transcobalamin I (vitamin B12 binding protein, R binder family),433aa) |
g.11:59623378C>A,c.901G>T,p.D301Y |
TCN1(NM_001062,transcobalamin I (vitamin B12 binding protein, R binder family),433aa) |
g.11:59623354C>T,c.925G>A,p.V309I |
TCN1(NM_001062,transcobalamin I (vitamin B12 binding protein, R binder family),433aa) |
g.11:59622246T>C,c.1000A>G,p.I334V |
TCN1(NM_001062,transcobalamin I (vitamin B12 binding protein, R binder family),433aa) |
g.11:59622240C>T,c.1006G>A,p.V336I |