Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_001008394.3
p.E35del1
c.103_105delGAG
NM_001008394.3
p.D89N
c.265G>A
NM_001008394.3
p.Y242C
c.725A>G
NM_001008394.3
p.Q43R
c.128A>G
NM_001008394.3
p.Q46L
c.137A>T
NM_001008394.3
p.E72delins
c.214_215delinsAT
NM_001008394.3
p.N74fs
c.220_221fs
NM_001008394.3
p.G100_E102del3
c.298_305del9
NM_001008394.3
p.V171G
c.512T>G
NM_001008394.3
p.Y213H
c.637T>C
NM_001008394.3
p.G226V
c.677G>T
NM_001008394.3
p.N250fs
c.748_749fs