Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_001282771.3
p.T229M
c.686C>T
NM_001282771.3
p.R146*
c.436C>T
NM_001282771.3
p.I283M
c.849C>G
NM_001282771.3
p.E303K
c.907G>A
NM_001282771.3
p.E1003insFs
c.3007_3008ins22
NM_001282771.3
p.M1insFs
c.1dupA
NM_001282771.3
p.E25Q
c.73G>C
NM_001282771.3
p.Q77R
c.230A>G
NM_001282771.3
p.T140I
c.419C>T
NM_001282771.3
p.R157W
c.469C>T
NM_001282771.3
p.Q160*
c.478C>T
NM_001282771.3
p.Q160_G161Splc
c.480+64A>C