Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_017775.4
p.L219*
c.656T>G
NM_017775.4
p.L219*
c.656T>A
NM_017775.4
p.Q173*
c.517C>T
NM_017775.4
p.Q277*
c.829C>T
NM_017775.4
p.L185P
c.554T>C
NM_017775.4
p.L324P
c.971T>C
NM_017775.4
p.G53insFs
c.157_158dupGG
NM_017775.4
p.P54fs
c.160_161fs
NM_017775.4
p.R52fs
c.154_155fs
NM_017775.4
p.A71_Q77insFs
c.213_229dup17
NM_017775.4
p.H50_G51delFs
c.150_153del4
NM_017775.4
p.Q277_T278Splc
c.831+2T>A