基因名 |
突变 |
UTRN(NM_007124,utrophin,3433aa) |
g.6:145161936A>G,c.10238A>G,p.E3413G |
UTRN(NM_007124,utrophin,3433aa) |
g.6:145157514C>T,c.9902C>T,p.S3301L |
UTRN(NM_007124,utrophin,3433aa) |
g.6:145156939A>G,c.9689A>G,p.Q3230R |
UTRN(NM_007124,utrophin,3433aa) |
g.6:145148757T>C,c.9544T>C,p.S3182P |
UTRN(NM_007124,utrophin,3433aa) |
g.6:145119104G>C,c.9223G>C,p.E3075Q |
UTRN(NM_007124,utrophin,3433aa) |
g.6:145114993C>T,c.8944C>T,p.P2982S |
UTRN(NM_007124,utrophin,3433aa) |
g.6:145110376A>G,c.8881A>G,p.M2961V |
UTRN(NM_007124,utrophin,3433aa) |
g.6:145073062C>T,c.8329C>T,p.L2777F |
UTRN(NM_007124,utrophin,3433aa) |
g.6:145051577A>G,c.7894A>G,p.I2632V |
UTRN(NM_007124,utrophin,3433aa) |
g.6:145051544G>A,c.7861G>A,p.D2621N |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144898360C>A,c.7415C>A,p.A2472D |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144878377A>G,c.7219A>G,p.S2407G |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144878341G>A,c.7183G>A,p.D2395N |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144875958T>C,c.7063T>C,p.Y2355H |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144869976G>A,c.6796G>A,p.V2266I |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144869859A>G,c.6679A>G,p.I2227V |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144869823A>G,c.6643A>G,p.I2215V |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144869785A>G,c.6605A>G,p.N2202S |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144860448G>A,c.6388G>A,p.E2130K |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144854353C>T,c.6190C>T,p.R2064C |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144854342G>A,c.6179G>A,p.G2060D |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144854319C>A,c.6156C>A,p.S2052R |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144852201G>A,c.5920G>A,p.A1974T |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144852187G>A,c.5907-1G>A,p.1969Acceptor |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144844317C>T,c.5899C>T,p.R1967W |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144843263A>C,c.5689A>C,p.T1897P |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144843212T>A,c.5638T>A,p.L1880I |
UTRN(NM_007124,utrophin,3433aa) |
g.6:144843159G>A,c.5585G>A,p.G1862E |