Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_030981.3
p.N121I
c.362A>T
NM_030981.3
p.Q67L
c.200A>T
NM_030981.3
p.R27R
c.81G>T
NM_030981.3
p.E35K
c.103G>A
NM_030981.3
p.E35Q
c.103G>C
NM_030981.3
p.V43G
c.128T>G
NM_030981.3
p.G54delFs
c.161delG
NM_030981.3
p.G54fs
c.160_161fs
NM_030981.3
p.A65A
c.195G>A
NM_030981.3
p.R69W
c.205C>T
NM_030981.3
p.I73F
c.217A>T
NM_030981.3
p.R79fs
c.235_236fs