Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_020772.3
p.T392A
c.1174A>G
NM_020772.3
p.Q29del1
c.85_86delCTG
NM_020772.3
p.E86_P88del3
c.256_263del9
NM_020772.3
p.V131E
c.392T>A
NM_020772.3
p.P445P
c.1335C>T
NM_020772.3
p.E3E
c.9G>A
NM_020772.3
p.K4E
c.10A>G
NM_020772.3
p.H14R
c.41A>G
NM_020772.3
p.P23P
c.69T>C
NM_020772.3
p.P30ins1
c.88_89insAGC
NM_020772.3
p.Q29_P30ins0
c.86_88dupAGC
NM_020772.3
p.H48_H49del1
c.144_146delTGG