Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_023933.3
p.A20T
c.58G>A
NM_023933.3
p.Q43*
c.127C>T
NM_023933.3
p.A196G
c.587C>G
NM_023933.3
p.A34delFs
c.102delC
NM_023933.3
p.A34A
c.102C>A
NM_023933.3
p.R52L
c.155G>T
NM_023933.3
p.Q54_V55Splc
c.162+5G>A
NM_023933.3
p.I89_V90Splc
c.267+1G>C
NM_023933.3
p.P100L
c.299C>T
NM_023933.3
p.G103A
c.308G>C
NM_023933.3
p.E105A
c.314A>C
NM_023933.3
p.Y129H
c.385T>C