Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_004121.5
p.G134Splc
c.400+5C>T
NM_004121.5
p.P158S
c.472C>T
NM_004121.5
p.V9I
c.25G>A
NM_004121.5
p.L18Q
c.53T>A
NM_004121.5
p.V28F
c.82G>T
NM_004121.5
p.H43P
c.128A>C
NM_004121.5
p.A59T
c.175G>A
NM_004121.5
p.P67T
c.199C>A
NM_004121.5
p.P67P
c.201C>T
NM_004121.5
p.P114Q
c.341C>A
NM_004121.5
p.G134G
c.402G>A
NM_004121.5
p.R182H
c.545G>A