Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_003216.4
p.M1T
c.2T>C
NM_003216.4
p.M1I
c.3G>C
NM_003216.4
p.P11S
c.31C>T
NM_003216.4
p.L31L
c.93G>A
NM_003216.4
p.E49*
c.145G>T
NM_003216.4
p.D53Splc
c.158-722T>C
NM_003216.4
p.D53E
c.159T>A
NM_003216.4
p.L61Q
c.182T>A
NM_003216.4
p.A112V
c.335C>T
NM_003216.4
p.P114A
c.340C>G
NM_003216.4
p.L117R
c.350T>G
NM_003216.4
p.H119R
c.356A>G