Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_017816.3
p.G243D
c.728G>A
NM_017816.3
p.D151N
c.451G>A
NM_017816.3
p.R273P
c.818G>C
NM_017816.3
p.N7S
c.20A>G
NM_017816.3
p.D39N
c.115G>A
NM_017816.3
p.G42fs
c.124_125fs
NM_017816.3
p.D44G
c.131A>G
NM_017816.3
p.Y63C
c.188A>G
NM_017816.3
p.G70G
c.210C>T
NM_017816.3
p.D71Y
c.211G>T
NM_017816.3
p.S82N
c.245G>A
NM_017816.3
p.R87*
c.259A>T