Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_021252.5
p.L24Q
c.71T>A
NM_021252.5
p.T95R
c.284C>G
NM_021252.5
p.Q67L
c.200A>T
NM_021252.5
p.R92del1
c.274_276delAGA
NM_021252.5
p.*207Q
c.619T>C
NM_021252.5
p.L12delFs
c.35delT
NM_021252.5
p.S23T
c.68G>C
NM_021252.5
p.S23Splc
c.68+235C>G
NM_021252.5
p.L24delFs
c.72delG
NM_021252.5
p.T32R
c.95C>G
NM_021252.5
p.T32M
c.95C>T
NM_021252.5
p.G42Splc
c.125-23A>C