Papers
RefSeq ID
Protein change
DNA change
1–12 of 108 variants
NM_002749.4
p.A296T
c.886G>A
NM_002749.4
p.E157K
c.469G>A
NM_002749.4
p.G469A
c.1406G>C
NM_002749.4
p.D182A
c.545A>C
NM_002749.4
p.P362H
c.1085C>A
NM_002749.4
p.R400L
c.1199G>T
NM_002749.4
p.S486A
c.1456T>G
NM_002749.4
p.A501D
c.1502C>A
NM_002749.4
p.P587L
c.1760C>T
NM_002749.4
p.P648L
c.1943C>T
NM_002749.4
p.M1R
c.2T>G
NM_002749.4
p.L5Q
c.14T>A