Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_017931.4
p.I274M
c.822C>G
NM_017931.4
p.A12V
c.35C>T
NM_017931.4
p.P104P
c.312G>T
NM_017931.4
p.C252F
c.755G>T
NM_017931.4
p.E267K
c.799G>A
NM_017931.4
p.H278H
c.834C>T
NM_017931.4
p.Q11_A12Splc
c.34-2A>G
NM_017931.4
p.A16P
c.46G>C
NM_017931.4
p.S21S
c.63C>A
NM_017931.4
p.S24G
c.70A>G
NM_017931.4
p.E26K
c.76G>A
NM_017931.4
p.Q37_Y38Splc
c.111+2T>A