Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_007353.3
p.M1V
c.1A>G
NM_007353.3
p.G28D
c.83G>A
NM_007353.3
p.V4fs
c.10_11fs
NM_007353.3
p.V4delFs
c.10delC
NM_007353.3
p.A17D
c.50C>A
NM_007353.3
p.E50K
c.148G>A
NM_007353.3
p.E67V
c.200A>T
NM_007353.3
p.F73Y
c.218T>A
NM_007353.3
p.G82R
c.244G>C
NM_007353.3
p.I101T
c.302T>C
NM_007353.3
p.K103_G104Splc
c.310-19736C>T
NM_007353.3
p.V107I
c.319G>A