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
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org