Papers
RefSeq ID
Protein change
DNA change
1–12 of 677 variants
NM_003001.5
p.R133*
c.397C>T
NM_003001.5
p.R15*
c.43C>T
NM_003001.5
p.H127R
c.380A>G
NM_003001.5
p.M1V
c.1A>G
NM_003001.5
p.R50C
c.148C>T
NM_003001.5
p.R72C
c.214C>T
NM_003001.5
p.L135_M136Splc
c.405+1G>T
NM_003001.5
p.G75D
c.224G>A
NM_003001.5
p.L139P
c.416T>C
NM_003001.5
p.M1I
c.3G>A
NM_003001.5
p.L90L
c.268C>T
NM_003001.5
p.S163P
c.487T>C