Papers
RefSeq ID
Protein change
DNA change
1–12 of 234 variants
NM_000191.3
p.R41Q
c.122G>A
NM_000191.3
p.E37*
c.109G>T
NM_000191.3
p.E279K
c.835G>A
NM_000191.3
p.K48N
c.144G>T
NM_000191.3
p.H233R
c.698A>G
NM_000191.3
p.R41*
c.121C>T
NM_000191.3
p.K48N
c.144G>C
NM_000191.3
p.S169delFs
c.505_506delGA
NM_000191.3
p.D42H
c.124G>C
NM_000191.3
p.D42G
c.125A>G
NM_000191.3
p.D42E
c.126T>G
NM_000191.3
p.S201Y
c.602C>A