Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_153710.5
p.E473K
c.1417G>A
NM_153710.5
p.R285Q
c.854G>A
NM_153710.5
p.G535C
c.1603G>T
NM_153710.5
p.D607N
c.1819G>A
NM_153710.5
p.L631P
c.1892T>C
NM_153710.5
p.G3G
c.9G>A
NM_153710.5
p.Y28*
c.84C>A
NM_153710.5
p.Y28*
c.84C>G
NM_153710.5
p.Q58_V59Splc
c.174+1G>A
NM_153710.5
p.Q58_V59Splc
c.175-211T>A
NM_153710.5
p.L71insFs
c.211_212insC
NM_153710.5
p.R81W
c.241C>T