Papers
RefSeq ID
Protein change
DNA change
1–12 of 136 variants
NM_002449.5
p.P148H
c.443C>A
NM_002449.5
p.R172H
c.515G>A
NM_002449.5
p.M129T
c.386T>C
NM_002449.5
p.P148L
c.443C>T
NM_002449.5
p.F149F
c.447T>C
NM_002449.5
p.L154P
c.461T>C
NM_002449.5
p.A89S
c.265G>T
NM_002449.5
p.A89E
c.266C>A
NM_002449.5
p.M1T
c.2T>C
NM_002449.5
p.G17S
c.49G>A
NM_002449.5
p.E32V
c.95A>T
NM_002449.5
p.W115delFs
c.345delG