Papers
RefSeq ID
Protein change
DNA change
1–12 of 161 variants
NM_013284.4
p.G220A
c.659G>C
NM_013284.4
p.G174S
c.520G>A
NM_013284.4
p.R175H
c.524G>A
NM_013284.4
p.R387K
c.1160G>A
NM_013284.4
p.P97fs
c.289_290fs
NM_013284.4
p.G201R
c.601G>A
NM_013284.4
p.G245R
c.733G>C
NM_013284.4
p.G245R
c.733G>A
NM_013284.4
p.P3T
c.7C>A
NM_013284.4
p.R5R
c.13C>A
NM_013284.4
p.R6Q
c.17G>A
NM_013284.4
p.R7*
c.19C>T